{ "uniprot_canonical_ac": "P22105-3", "uniprot_ac": "P22105", "uniprot_id": "TENX_HUMAN", "mass": { "chemical_mass": 458388.0, "monoisotopic_mass": 458388.0 }, "refseq": { "ac": "NP_061978", "name": "tenascin-X isoform 1 precursor", "summary": "This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" }, "gene_names": [ { "name": "TNXB", "type": "recommended", "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" } ] }, { "name": "EDS3", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "EDSCLL1", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "EDSCLL", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "HXBL", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" }, { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" } ] }, { "name": "TENX", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "TN-X", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "TNXB1", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" }, { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" } ] }, { "name": "TNXB2", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" }, { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" } ] }, { "name": "TNXBS", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "TNXB", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "TNX", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" }, { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" } ] }, { "name": "VUR8", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "XBS", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "XB", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" }, { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" } ] } ], "protein_names": [ { "name": "Tenascin-X", "type": "recommended", "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105/entry#names_and_taxonomy" } ] }, { "name": "Hexabrachion-like protein", "type": "synonym", "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105/entry#names_and_taxonomy" } ] }, { "name": "TN-X", "type": "synonym", "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105/entry#names_and_taxonomy" } ] }, { "name": "growth-inhibiting protein 45", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "hexabrachion-like protein", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "tenascin XB1", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "tenascin XB2", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "tenascin-X isoform 1 precursor", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] }, { "name": "tenascin-X", "type": "synonym", "evidence": [ { "id": "NP_061978", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] } ], "function": [ { "annotation": "Aberrant methylation and expression of TNXB promote chondrocyte apoptosis and extracullar matrix degradation in hemophilic arthropathy via AKT signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_061978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" }, { "database": "PubMed", "id": "38819423", "url": "https://glygen.org/publication/PubMed/38819423" } ] }, { "annotation": "Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors.", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105#function" }, { "database": "PubMed", "id": "17033827", "url": "https://glygen.org/publication/PubMed/17033827" } ] }, { "annotation": "Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_061978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" }, { "database": "PubMed", "id": "36259452", "url": "https://glygen.org/publication/PubMed/36259452" } ] }, { "annotation": "Tenascins and osteopontin in biological response in cornea.", "evidence": [ { "database": "RefSeq", "id": "NP_061978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" }, { "database": "PubMed", "id": "37209968", "url": "https://glygen.org/publication/PubMed/37209968" } ] }, { "annotation": "This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_061978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ] } ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:12935", "recommended_name": { "id": "DOID:12935", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12935", "name": "alcoholic cardiomyopathy", "description": "" }, "synonyms": [ { "id": "DOID:12935", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12935", "name": "Alcohol-induced heart muscle disease", "description": "" }, { "id": "DOID:12935", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12935", "name": "Dilated cardiomyopathy secondary to alcohol", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "12935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12935" } ] }, { "disease_id": "DOID:13359", "recommended_name": { "id": "DOID:13359", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13359", "name": "Ehlers-Danlos syndrome", "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules." }, "synonyms": [ { "id": "DOID:13359", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13359", "name": "Cutis hyperelastica", "description": "" }, { "id": "DOID:13359", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13359", "name": "elastic skin", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene." }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "EDS I", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "EDSCL1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "" }, { "id": "MONDO:0019567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019567", "name": "Ehlers-Danlos syndrome, type I", "description": "" }, { "id": "MIM:130000", "resource": "MIM", "url": "https://www.omim.org/entry/130000", "name": "Ehlers-Danlos syndrome, classic type, 1", "description": "Ehlers-Danlos syndrome, classic type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "13359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13359" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "snv": [ { "evidence": [ { "id": "rs1046657952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1046657952" }, { "id": "rs1046657952", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1046657952" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1469, "end_pos": 1469, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 3 filters: n-glyco-sequon-gain (TES->NES); o-glyco-site-loss (T->N); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073922", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768607753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768607753" }, { "id": "rs768607753", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768607753" }, { "id": "rs768607753", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768607753#frequency_tab" }, { "id": "rs768607753", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768607753" }, { "id": "rs768607753", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768607753" } ], "glycoeffect": [], "start_pos": 1001, "end_pos": 1001, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085896", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1001", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs202227084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202227084" }, { "id": "rs202227084", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202227084" }, { "id": "rs202227084", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202227084" }, { "id": "rs202227084", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202227084#frequency_tab" }, { "id": "rs202227084", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202227084" }, { "id": "rs202227084", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202227084" } ], "glycoeffect": [], "start_pos": 1076, "end_pos": 1076, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084632", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1076", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1779514971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779514971" }, { "id": "rs1779514971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779514971#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1158, "end_pos": 1158, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082299", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773796746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773796746" }, { "id": "rs773796746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773796746" }, { "id": "rs773796746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773796746#frequency_tab" }, { "id": "rs773796746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773796746" }, { "id": "rs773796746", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773796746" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1242, "end_pos": 1242, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (DGT->NGT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082048", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1242", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs371069668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371069668" }, { "id": "rs371069668", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371069668#frequency_tab" }, { "id": "rs371069668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371069668" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1330, "end_pos": 1330, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NLY->NLS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081421", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761085285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761085285" }, { "id": "rs761085285", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761085285" }, { "id": "rs761085285", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761085285#frequency_tab" }, { "id": "rs761085285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761085285" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1364, "end_pos": 1364, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->M); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079317", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1364", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761085285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761085285" }, { "id": "rs761085285", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761085285" }, { "id": "rs761085285", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761085285#frequency_tab" }, { "id": "rs761085285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761085285" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1364, "end_pos": 1364, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->R); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079317", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1364", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779286909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779286909" }, { "id": "rs1779286909", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779286909#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1421, "end_pos": 1421, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KES->NES); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079145", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1421", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1587, "end_pos": 1587, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (DIT->NIT); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072221", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1587", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2127293388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127293388" }, { "id": "rs2127293388", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127293388" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 166, "end_pos": 166, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097357", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T166", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs371138982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371138982" }, { "id": "rs371138982", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371138982" }, { "id": "rs371138982", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371138982#frequency_tab" }, { "id": "rs371138982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371138982" } ], "glycoeffect": [], "start_pos": 1724, "end_pos": 1724, "subjects_tested": "1773", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070234", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1724", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs370153313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370153313" }, { "id": "rs370153313", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs370153313" }, { "id": "rs370153313", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370153313" }, { "id": "rs370153313", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370153313#frequency_tab" }, { "id": "rs370153313", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370153313" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1756, "end_pos": 1756, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DGT->NGT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070139", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "D1756", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1766, "end_pos": 1766, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (DDT->NDT); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069844", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1766", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs767799073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767799073" }, { "id": "rs767799073", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767799073" }, { "id": "rs767799073", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767799073#frequency_tab" }, { "id": "rs767799073", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767799073" }, { "id": "rs767799073", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767799073" } ], "glycoeffect": [], "start_pos": 1777, "end_pos": 1777, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069810", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1777", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "rs1439218404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439218404" }, { "id": "rs1439218404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439218404" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 178, "end_pos": 178, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->F); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097320", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2151915881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151915881" }, { "id": "rs2151915881", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151915881" }, { "id": "rs2151915881", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151915881" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1862, "end_pos": 1862, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->I); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069555", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1862", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1188559992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188559992" }, { "id": "rs1188559992", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1188559992#frequency_tab" }, { "id": "rs1188559992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1188559992" }, { "id": "rs1188559992", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1188559992" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1868, "end_pos": 1868, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069121", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1868", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "rs1582407703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582407703" }, { "id": "rs1582407703", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582407703" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1870, "end_pos": 1870, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (TET->NET); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069115", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1870", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs777744859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777744859" }, { "id": "rs777744859", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777744859" }, { "id": "rs777744859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777744859#frequency_tab" }, { "id": "rs777744859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777744859" }, { "id": "rs777744859", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777744859" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1873, "end_pos": 1873, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->M); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069106", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1873", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs777744859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777744859" }, { "id": "rs777744859", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777744859" }, { "id": "rs777744859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777744859#frequency_tab" }, { "id": "rs777744859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777744859" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1873, "end_pos": 1873, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->R); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069106", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1873", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1876, "end_pos": 1876, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->I); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069097", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1876", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1343033194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343033194" }, { "id": "rs1343033194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1343033194" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1876, "end_pos": 1876, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->N); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069097", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1876", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778575053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778575053" }, { "id": "rs1778575053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778575053" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1934, "end_pos": 1934, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NDI->NDT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068923", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1934", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs773297077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773297077" }, { "id": "rs773297077", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773297077" }, { "id": "rs773297077", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773297077#frequency_tab" }, { "id": "rs773297077", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773297077" }, { "id": "rs773297077", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773297077" } ], "glycoeffect": [], "start_pos": 1969, "end_pos": 1969, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068704", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1969", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1378061730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378061730" }, { "id": "rs1378061730", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378061730" }, { "id": "rs1378061730", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1378061730" } ], "glycoeffect": [], "start_pos": 196, "end_pos": 196, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097267", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R196", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs148556332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148556332" }, { "id": "rs148556332", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148556332" }, { "id": "rs148556332", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148556332" }, { "id": "rs148556332", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148556332#frequency_tab" }, { "id": "rs148556332", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148556332" }, { "id": "rs148556332", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148556332" } ], "glycoeffect": [], "start_pos": 1980, "end_pos": 1980, "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068672", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1980", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "rs1230512934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230512934" }, { "id": "rs1230512934", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230512934#frequency_tab" }, { "id": "rs1230512934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230512934" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1981, "end_pos": 1981, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068668", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1981", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1230512934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230512934" }, { "id": "rs1230512934", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230512934#frequency_tab" }, { "id": "rs1230512934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230512934" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1981, "end_pos": 1981, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->N); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068668", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1981", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1228014700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228014700" }, { "id": "rs1228014700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1228014700#frequency_tab" }, { "id": "rs1228014700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228014700" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2004, "end_pos": 2004, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SLS->NLS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068599", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2004", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2128, "end_pos": 2128, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067823", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q2128", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs369931629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369931629" }, { "id": "rs369931629", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369931629" }, { "id": "rs369931629", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369931629#frequency_tab" }, { "id": "rs369931629", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369931629" }, { "id": "rs369931629", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369931629" } ], "glycoeffect": [], "start_pos": 2171, "end_pos": 2171, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067694", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2171", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1370089788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370089788" }, { "id": "rs1370089788", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1370089788#frequency_tab" }, { "id": "rs1370089788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370089788" }, { "id": "rs1370089788", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1370089788" } ], "glycoeffect": [], "start_pos": 2180, "end_pos": 2180, "subjects_tested": "1773", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067667", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2180", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2211, "end_pos": 2211, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (SLS->NLS); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065030", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S2211", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1454433703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454433703" }, { "id": "rs1454433703", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454433703" } ], "glycoeffect": [], "start_pos": 2270, "end_pos": 2270, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064854", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2270", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs759942876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759942876" }, { "id": "rs759942876", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759942876" }, { "id": "rs759942876", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759942876#frequency_tab" }, { "id": "rs759942876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759942876" }, { "id": "rs759942876", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759942876" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2292, "end_pos": 2292, "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (S->L); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062450", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2292", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs928617006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs928617006" }, { "id": "rs928617006", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs928617006#frequency_tab" }, { "id": "rs928617006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs928617006" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2292, "end_pos": 2292, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->P); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062451", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151908299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151908299" }, { "id": "rs2151908299", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151908299" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2297, "end_pos": 2297, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062436", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2297", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs777077674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777077674" }, { "id": "rs777077674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777077674" }, { "id": "rs777077674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777077674#frequency_tab" }, { "id": "rs777077674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777077674" }, { "id": "rs777077674", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777077674" } ], "glycoeffect": [], "start_pos": 2311, "end_pos": 2311, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062394", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2311", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1180068994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180068994" }, { "id": "rs1180068994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1180068994#frequency_tab" }, { "id": "rs1180068994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1180068994" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2313, "end_pos": 2313, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DAT->NAT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062388", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2313", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1562815578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562815578" }, { "id": "rs1562815578", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562815578" }, { "id": "rs1562815578", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1562815578" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2320, "end_pos": 2320, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (SLS->NLS); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062366", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S2320", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs769788487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769788487" }, { "id": "rs769788487", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769788487" }, { "id": "rs769788487", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769788487" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2324, "end_pos": 2324, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062355", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs17207909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207909" }, { "id": "rs17207909", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17207909" }, { "id": "rs17207909", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207909" }, { "id": "rs17207909", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs17207909#frequency_tab" }, { "id": "rs17207909", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs17207909" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2324, "end_pos": 2324, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->K); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062354", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs17207909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207909" }, { "id": "rs17207909", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17207909" }, { "id": "rs17207909", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207909" }, { "id": "rs17207909", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs17207909#frequency_tab" }, { "id": "rs17207909", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs17207909" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2324, "end_pos": 2324, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->M); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062354", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778069005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778069005" }, { "id": "rs1778069005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778069005#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2357, "end_pos": 2357, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062256", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1170122235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170122235" }, { "id": "rs1170122235", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170122235" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2399, "end_pos": 2399, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061694", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2399", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748008150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748008150" }, { "id": "rs748008150", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748008150" }, { "id": "rs748008150", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748008150#frequency_tab" }, { "id": "rs748008150", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748008150" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 243, "end_pos": 243, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DCS->NCS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097126", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D243", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs752650618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752650618" }, { "id": "rs752650618", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752650618" }, { "id": "rs752650618", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752650618#frequency_tab" }, { "id": "rs752650618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752650618" }, { "id": "rs752650618", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752650618" } ], "glycoeffect": [], "start_pos": 2486, "end_pos": 2486, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061433", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2486", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1401914705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401914705" }, { "id": "rs1401914705", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1401914705#frequency_tab" }, { "id": "rs1401914705", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401914705" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2510, "end_pos": 2510, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058354", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2510", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776980915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776980915" }, { "id": "rs776980915", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776980915" }, { "id": "rs776980915", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776980915#frequency_tab" }, { "id": "rs776980915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776980915" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2514, "end_pos": 2514, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058342", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776980915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776980915" }, { "id": "rs776980915", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776980915" }, { "id": "rs776980915", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776980915#frequency_tab" }, { "id": "rs776980915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776980915" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2514, "end_pos": 2514, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->R); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058342", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs367661800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367661800" }, { "id": "rs367661800", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs367661800" }, { "id": "rs367661800", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367661800" }, { "id": "rs367661800", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367661800#frequency_tab" }, { "id": "rs367661800", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367661800" }, { "id": "rs367661800", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs367661800" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2649, "end_pos": 2649, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->M); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056783", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2649", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs745585243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745585243" }, { "id": "rs745585243", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745585243" }, { "id": "rs745585243", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745585243" }, { "id": "rs745585243", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs745585243" } ], "glycoeffect": [], "start_pos": 2758, "end_pos": 2758, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "V", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056046", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I2758", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2783, "end_pos": 2783, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 2 filters: patient freq. (1.1%); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055969", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2783", "keywords": [ "biomuta", "somatic", "cancer" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2795, "end_pos": 2795, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055935", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2795", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1046018971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1046018971" }, { "id": "rs1046018971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1046018971#frequency_tab" }, { "id": "rs1046018971", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1046018971" }, { "id": "rs1046018971", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1046018971" } ], "glycoeffect": [], "start_pos": 2809, "end_pos": 2809, "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055893", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2809", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs753765905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753765905" }, { "id": "rs753765905", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753765905" }, { "id": "rs753765905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753765905" }, { "id": "rs753765905", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753765905" } ], "glycoeffect": [], "start_pos": 2812, "end_pos": 2812, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055884", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2812", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "rs750312500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750312500" }, { "id": "rs750312500", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750312500" }, { "id": "rs750312500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750312500" }, { "id": "rs750312500", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750312500" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2837, "end_pos": 2837, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053669", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2837", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1777447093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777447093" }, { "id": "rs1777447093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777447093" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2838, "end_pos": 2838, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053666", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2838", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777447093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777447093" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2838, "end_pos": 2838, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->N); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053666", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2838", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2861, "end_pos": 2861, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (SLS->NLS); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053597", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S2861", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs2151897290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151897290" }, { "id": "rs2151897290", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151897290" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2913, "end_pos": 2913, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NLY->NLS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053441", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2913", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs529485424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529485424" }, { "id": "rs529485424", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529485424" }, { "id": "rs529485424", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529485424" }, { "id": "rs529485424", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs529485424#frequency_tab" }, { "id": "rs529485424", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529485424" }, { "id": "rs529485424", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529485424" } ], "glycoeffect": [], "start_pos": 2921, "end_pos": 2921, "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053418", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2921", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2943, "end_pos": 2943, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (S->C); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052958", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2943", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1315852032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315852032" }, { "id": "rs1315852032", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1315852032#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2943, "end_pos": 2943, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->R); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052956", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2943", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1013065435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1013065435" }, { "id": "rs1013065435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1013065435" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2944, "end_pos": 2944, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->M); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052954", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2944", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1247878826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247878826" }, { "id": "rs1247878826", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1247878826" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2944, "end_pos": 2944, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052955", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2944", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs374268905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374268905" }, { "id": "rs374268905", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374268905" }, { "id": "rs374268905", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374268905#frequency_tab" }, { "id": "rs374268905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374268905" }, { "id": "rs374268905", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374268905" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 294, "end_pos": 294, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (NGR->NGC); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096973", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R294", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3052, "end_pos": 3052, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->I); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050282", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T3052", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777199493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777199493" }, { "id": "rs1777199493", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777199493#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3054, "end_pos": 3054, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050277", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368614627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368614627" }, { "id": "rs368614627", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368614627" }, { "id": "rs368614627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368614627#frequency_tab" }, { "id": "rs368614627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368614627" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3054, "end_pos": 3054, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050276", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368614627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368614627" }, { "id": "rs368614627", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368614627" }, { "id": "rs368614627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368614627#frequency_tab" }, { "id": "rs368614627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368614627" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3054, "end_pos": 3054, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->N); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050276", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777498453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777498453" }, { "id": "rs777498453", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777498453" }, { "id": "rs777498453", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777498453#frequency_tab" }, { "id": "rs777498453", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777498453" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3154, "end_pos": 3154, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049567", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3154", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771844955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771844955" }, { "id": "rs771844955", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771844955" }, { "id": "rs771844955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771844955" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3154, "end_pos": 3154, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049566", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3154", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771844955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771844955" }, { "id": "rs771844955", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771844955" }, { "id": "rs771844955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771844955" }, { "id": "rs771844955", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771844955" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3154, "end_pos": 3154, "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->K); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049566", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3154", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs550527920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550527920" }, { "id": "rs550527920", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550527920" }, { "id": "rs550527920", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550527920" }, { "id": "rs550527920", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550527920#frequency_tab" }, { "id": "rs550527920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550527920" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3158, "end_pos": 3158, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049554", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "T3158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483425921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483425921" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3158, "end_pos": 3158, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->M); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049553_32049554delin", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371203468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371203468" }, { "id": "rs371203468", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371203468" }, { "id": "rs371203468", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371203468#frequency_tab" }, { "id": "rs371203468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371203468" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 31, "end_pos": 31, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->DVT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098108", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N31", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1235484577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235484577" }, { "id": "rs1235484577", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1235484577#frequency_tab" }, { "id": "rs1235484577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235484577" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 31, "end_pos": 31, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->KVT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098106", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N31", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759483542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759483542" }, { "id": "rs759483542", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759483542" }, { "id": "rs759483542", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759483542#frequency_tab" }, { "id": "rs759483542", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759483542" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 31, "end_pos": 31, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->SVT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098107", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N31", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs587777683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777683" }, { "id": "rs587777683", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777683" }, { "id": "rs587777683", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs587777683#frequency_tab" }, { "id": "rs587777683", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs587777683" }, { "id": "23620400", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23620400" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3257, "end_pos": 3257, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048638", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3257", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs377701017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377701017" }, { "id": "rs377701017", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377701017" }, { "id": "rs377701017", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377701017#frequency_tab" }, { "id": "rs377701017", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377701017" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 33, "end_pos": 33, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->NVI); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098101", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T33", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs976483019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs976483019" }, { "id": "rs976483019", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs976483019" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3541, "end_pos": 3541, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045312", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3541", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746909022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746909022" }, { "id": "rs746909022", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746909022" }, { "id": "rs746909022", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746909022" }, { "id": "rs746909022", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746909022" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 3566, "end_pos": 3566, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DTT->NTT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045237", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3566", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs144423272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144423272" }, { "id": "rs144423272", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144423272" }, { "id": "rs144423272", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144423272" }, { "id": "rs144423272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144423272" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 3605, "end_pos": 3605, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DQS->NQS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045120", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3605", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776589348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776589348" }, { "id": "rs1776589348", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776589348" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 3855, "end_pos": 3855, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLT->SLT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043523", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3855", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1377082407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377082407" }, { "id": "rs1377082407", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377082407" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 3857, "end_pos": 3857, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLT->NLP); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043518", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3857", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776578889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776578889" }, { "id": "rs1776578889", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776578889" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3880, "end_pos": 3880, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043449", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3880", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs937602127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs937602127" }, { "id": "rs937602127", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs937602127#frequency_tab" }, { "id": "rs937602127", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs937602127" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 397, "end_pos": 397, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DDC->NDC); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096664", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1288962781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1288962781" }, { "id": "rs1288962781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1288962781" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 3983, "end_pos": 3983, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (ITS->NTS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042809", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3983", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs961352374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs961352374" }, { "id": "rs961352374", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs961352374#frequency_tab" }, { "id": "rs961352374", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs961352374" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 4038, "end_pos": 4038, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NGA->NGS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042553", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4038", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs930462825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs930462825" }, { "id": "rs930462825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs930462825" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 4095, "end_pos": 4095, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NIS->KIS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042288", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4095", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776472502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776472502" }, { "id": "rs1776472502", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776472502" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 4095, "end_pos": 4095, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NIS->SIS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042289", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4095", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776459571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776459571" }, { "id": "rs1776459571", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776459571" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 4115, "end_pos": 4115, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DYS->NYS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042138", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1261805934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1261805934" }, { "id": "rs1261805934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1261805934" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 4153, "end_pos": 4153, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (HGT->NGT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042024", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H4153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs529618820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529618820" }, { "id": "rs529618820", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529618820" }, { "id": "rs529618820", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529618820" }, { "id": "rs529618820", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529618820" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 4238, "end_pos": 4238, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NFR->NFC); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041372", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364428872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364428872" }, { "id": "rs1364428872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364428872" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 455, "end_pos": 455, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NAG->NAS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096490", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 47, "end_pos": 47, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->A); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045081", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T47", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 47, "end_pos": 47, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->P); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045081", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T47", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 504, "end_pos": 504, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096342", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R504", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 54, "end_pos": 54, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (S->R); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098037", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S54", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs201703963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201703963" }, { "id": "rs201703963", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201703963" }, { "id": "rs201703963", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201703963" }, { "id": "rs201703963", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201703963#frequency_tab" }, { "id": "rs201703963", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201703963" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 643, "end_pos": 643, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095926", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000981162", "site_lbl": "T643", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1448592507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448592507" }, { "id": "rs1448592507", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448592507" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 643, "end_pos": 643, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->I); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095925", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T643", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs201703963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201703963" }, { "id": "rs201703963", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201703963" }, { "id": "rs201703963", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201703963" }, { "id": "rs201703963", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201703963#frequency_tab" }, { "id": "rs201703963", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201703963" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 643, "end_pos": 643, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095926", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000981162", "site_lbl": "T643", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287406" }, { "id": "rs2127287406", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287406" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 646, "end_pos": 646, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095917", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T646", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287397" }, { "id": "rs2127287397", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287397" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 646, "end_pos": 646, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->N); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095916", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T646", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776085809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776085809" }, { "id": "rs776085809", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776085809" }, { "id": "rs776085809", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776085809#frequency_tab" }, { "id": "rs776085809", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776085809" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 731, "end_pos": 731, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DGS->NGS); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095662", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D731", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1179436412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179436412" }, { "id": "rs1179436412", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1179436412#frequency_tab" }, { "id": "rs1179436412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179436412" }, { "id": "rs1179436412", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1179436412" } ], "glycoeffect": [], "start_pos": 743, "end_pos": 743, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095626", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E743", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 80, "end_pos": 80, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (NLP->NLS); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097961", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P80", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1226434737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226434737" }, { "id": "rs1226434737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226434737#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 835, "end_pos": 835, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (TIT->NIT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089234", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T835", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1246467263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246467263" }, { "id": "rs1246467263", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246467263" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 83, "end_pos": 83, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097952", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T83", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1397351739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397351739" }, { "id": "rs1397351739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1397351739" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 891, "end_pos": 891, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DGT->NGT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088893", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D891", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs758481959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758481959" }, { "id": "rs758481959", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758481959" }, { "id": "rs758481959", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758481959#frequency_tab" }, { "id": "rs758481959", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758481959" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 91, "end_pos": 91, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->I); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097927", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T91", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1200536380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200536380" }, { "id": "rs1200536380", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1200536380#frequency_tab" }, { "id": "rs1200536380", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1200536380" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 936, "end_pos": 936, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->N); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086091", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T936", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1191806705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191806705" }, { "id": "rs1191806705", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191806705" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 946, "end_pos": 946, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->L); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086061", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S946", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758324181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758324181" }, { "id": "rs758324181", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758324181" }, { "id": "rs758324181", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758324181#frequency_tab" }, { "id": "rs758324181", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758324181" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 947, "end_pos": 947, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->M); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086058", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T947", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs950928412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs950928412" }, { "id": "rs950928412", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs950928412#frequency_tab" }, { "id": "rs950928412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs950928412" }, { "id": "rs950928412", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs950928412" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 948, "end_pos": 948, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->M); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086055", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T948", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 972, "end_pos": 972, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (DET->NET); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085984", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D972", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201292165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201292165" }, { "id": "rs201292165", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201292165" }, { "id": "rs201292165", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201292165#frequency_tab" }, { "id": "rs201292165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201292165" }, { "id": "rs201292165", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201292165" } ], "glycoeffect": [], "start_pos": 994, "end_pos": 994, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085918", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R994", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1562859531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562859531" }, { "id": "rs1562859531", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562859531" } ], "glycoeffect": [], "start_pos": 1000, "end_pos": 1000, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085900", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1000", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774205735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774205735" }, { "id": "rs774205735", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774205735" }, { "id": "rs774205735", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774205735" } ], "glycoeffect": [], "start_pos": 1001, "end_pos": 1001, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085897", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1001", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439625966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439625966" }, { "id": "rs1439625966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439625966" } ], "glycoeffect": [], "start_pos": 1002, "end_pos": 1002, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085893", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1044886455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1044886455" }, { "id": "rs1044886455", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1044886455#frequency_tab" }, { "id": "rs1044886455", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1044886455" } ], "glycoeffect": [], "start_pos": 1002, "end_pos": 1002, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085894", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439625966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439625966" }, { "id": "rs1439625966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439625966" } ], "glycoeffect": [], "start_pos": 1002, "end_pos": 1002, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085893", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779982510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779982510" }, { "id": "rs779982510", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779982510" }, { "id": "rs779982510", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779982510#frequency_tab" }, { "id": "rs779982510", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779982510" } ], "glycoeffect": [], "start_pos": 1003, "end_pos": 1003, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085891", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1003", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779982510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779982510" }, { "id": "rs779982510", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779982510" }, { "id": "rs779982510", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779982510#frequency_tab" }, { "id": "rs779982510", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779982510" } ], "glycoeffect": [], "start_pos": 1003, "end_pos": 1003, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085891", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1003", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779982510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779982510" }, { "id": "rs779982510", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779982510" }, { "id": "rs779982510", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779982510#frequency_tab" }, { "id": "rs779982510", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779982510" } ], "glycoeffect": [], "start_pos": 1003, "end_pos": 1003, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085891", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1003", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1326068307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326068307" }, { "id": "rs1326068307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1326068307" } ], "glycoeffect": [], "start_pos": 1004, "end_pos": 1004, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085887", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1004", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753085036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753085036" }, { "id": "rs753085036", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753085036" }, { "id": "rs753085036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753085036" } ], "glycoeffect": [], "start_pos": 1005, "end_pos": 1005, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085883", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1005", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441189526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441189526" }, { "id": "rs1441189526", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1441189526#frequency_tab" }, { "id": "rs1441189526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441189526" } ], "glycoeffect": [], "start_pos": 1005, "end_pos": 1005, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085884", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1005", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1005, "end_pos": 1005, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085885", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1005", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1006, "end_pos": 1006, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085882", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1006", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1176134021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176134021" }, { "id": "rs1176134021", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1176134021#frequency_tab" }, { "id": "rs1176134021", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1176134021" } ], "glycoeffect": [], "start_pos": 100, "end_pos": 100, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097901", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780955863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780955863" }, { "id": "rs780955863", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780955863" }, { "id": "rs780955863", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780955863" } ], "glycoeffect": [], "start_pos": 1010, "end_pos": 1010, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085870", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1010", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1011, "end_pos": 1011, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085866", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D1011", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1052520991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1052520991" }, { "id": "rs1052520991", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1052520991#frequency_tab" } ], "glycoeffect": [], "start_pos": 1012, "end_pos": 1012, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085863", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1052520991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1052520991" }, { "id": "rs1052520991", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1052520991#frequency_tab" } ], "glycoeffect": [], "start_pos": 1012, "end_pos": 1012, "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085863", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751045102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751045102" } ], "glycoeffect": [], "start_pos": 1012, "end_pos": 1012, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085864", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs751045102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751045102" }, { "id": "rs751045102", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751045102" }, { "id": "rs751045102", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751045102#frequency_tab" }, { "id": "rs751045102", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751045102" } ], "glycoeffect": [], "start_pos": 1012, "end_pos": 1012, "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085864", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1012", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs778207341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778207341" }, { "id": "rs778207341", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778207341" }, { "id": "rs778207341", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778207341#frequency_tab" }, { "id": "rs778207341", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778207341" } ], "glycoeffect": [], "start_pos": 1013, "end_pos": 1013, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085861", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1013", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs200322894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200322894" }, { "id": "rs200322894", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200322894" }, { "id": "rs200322894", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200322894#frequency_tab" }, { "id": "rs200322894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200322894" } ], "glycoeffect": [], "start_pos": 1013, "end_pos": 1013, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085860", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1013", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1214491752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214491752" }, { "id": "rs1214491752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214491752" } ], "glycoeffect": [], "start_pos": 1014, "end_pos": 1014, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085858", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1014", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1015, "end_pos": 1015, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085855", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1015", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2127264847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127264847" }, { "id": "rs2127264847", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127264847" } ], "glycoeffect": [], "start_pos": 1016, "end_pos": 1016, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085852", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1016", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779734548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779734548" }, { "id": "rs1779734548", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779734548#frequency_tab" } ], "glycoeffect": [], "start_pos": 1017, "end_pos": 1017, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085848", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1017", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1271298495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1271298495" }, { "id": "rs1271298495", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1271298495" } ], "glycoeffect": [], "start_pos": 1018, "end_pos": 1018, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085846", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1018", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1019, "end_pos": 1019, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085843", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P1019", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1019, "end_pos": 1019, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085842", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1019", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1562879471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562879471" }, { "id": "rs1562879471", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562879471" } ], "glycoeffect": [], "start_pos": 101, "end_pos": 101, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097898", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759852399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759852399" }, { "id": "rs759852399", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759852399" }, { "id": "rs759852399", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759852399#frequency_tab" }, { "id": "rs759852399", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759852399" } ], "glycoeffect": [], "start_pos": 1020, "end_pos": 1020, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085839", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1020, "end_pos": 1020, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085839", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1020", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765589802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765589802" }, { "id": "rs765589802", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765589802" }, { "id": "rs765589802", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765589802#frequency_tab" }, { "id": "rs765589802", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765589802" } ], "glycoeffect": [], "start_pos": 1020, "end_pos": 1020, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085840", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765589802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765589802" }, { "id": "rs765589802", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765589802" }, { "id": "rs765589802", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765589802#frequency_tab" }, { "id": "rs765589802", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765589802" } ], "glycoeffect": [], "start_pos": 1020, "end_pos": 1020, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085840", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754081688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754081688" }, { "id": "rs754081688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754081688" }, { "id": "rs754081688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754081688" } ], "glycoeffect": [], "start_pos": 1021, "end_pos": 1021, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085837", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1021", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1372840057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372840057" }, { "id": "rs1372840057", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372840057" } ], "glycoeffect": [], "start_pos": 1021, "end_pos": 1021, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085836", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1021", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1021, "end_pos": 1021, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085837", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1021", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs754081688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754081688" }, { "id": "rs754081688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754081688" }, { "id": "rs754081688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754081688" } ], "glycoeffect": [], "start_pos": 1021, "end_pos": 1021, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085837", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1021", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1779732660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779732660" }, { "id": "rs1779732660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779732660#frequency_tab" }, { "id": "rs1779732660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779732660" }, { "id": "rs1779732660", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779732660" } ], "glycoeffect": [], "start_pos": 1022, "end_pos": 1022, "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085834", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1022", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs923551929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs923551929" }, { "id": "rs923551929", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs923551929#frequency_tab" }, { "id": "rs923551929", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs923551929" } ], "glycoeffect": [], "start_pos": 1025, "end_pos": 1025, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085824", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1025", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773337783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773337783" }, { "id": "rs773337783", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773337783" }, { "id": "rs773337783", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773337783#frequency_tab" }, { "id": "rs773337783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773337783" } ], "glycoeffect": [], "start_pos": 1028, "end_pos": 1028, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085816", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1028", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780501485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780501485" }, { "id": "rs1780501485", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780501485" } ], "glycoeffect": [], "start_pos": 102, "end_pos": 102, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097895", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 102, "end_pos": 102, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097894", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A102", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768536654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768536654" }, { "id": "rs768536654", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768536654" }, { "id": "rs768536654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768536654" } ], "glycoeffect": [], "start_pos": 1030, "end_pos": 1030, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085810", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1031, "end_pos": 1031, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085807", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H1031", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1032, "end_pos": 1032, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085803", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1032", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1158909307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1158909307" }, { "id": "rs1158909307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1158909307" } ], "glycoeffect": [], "start_pos": 1033, "end_pos": 1033, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085801", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1033", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779730237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779730237" }, { "id": "rs1779730237", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779730237#frequency_tab" }, { "id": "rs1779730237", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779730237" } ], "glycoeffect": [], "start_pos": 1035, "end_pos": 1035, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085795", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1035", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs762999204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762999204" }, { "id": "rs762999204", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762999204" }, { "id": "rs762999204", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762999204" }, { "id": "rs762999204", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs762999204" } ], "glycoeffect": [], "start_pos": 1036, "end_pos": 1036, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085791", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1036", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1194530411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194530411" }, { "id": "rs1194530411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194530411" } ], "glycoeffect": [], "start_pos": 1037, "end_pos": 1037, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085788", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1037", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779729330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779729330" }, { "id": "rs1779729330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779729330#frequency_tab" } ], "glycoeffect": [], "start_pos": 1038, "end_pos": 1038, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085786", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1038", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779729087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779729087" }, { "id": "rs1779729087", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779729087" } ], "glycoeffect": [], "start_pos": 1038, "end_pos": 1038, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085785", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1038", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs976340379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs976340379" }, { "id": "rs976340379", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs976340379#frequency_tab" } ], "glycoeffect": [], "start_pos": 1039, "end_pos": 1039, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085782", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780500935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780500935" }, { "id": "rs1780500935", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780500935" } ], "glycoeffect": [], "start_pos": 103, "end_pos": 103, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097891", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1003249117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003249117" }, { "id": "rs1003249117", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1003249117" } ], "glycoeffect": [], "start_pos": 103, "end_pos": 103, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097892", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745613644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745613644" }, { "id": "rs745613644", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745613644" }, { "id": "rs745613644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745613644" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1040, "end_pos": 1040, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085780", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1040", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1470010323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470010323" }, { "id": "rs1470010323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1470010323" } ], "glycoeffect": [], "start_pos": 1042, "end_pos": 1042, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085773", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1042", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483700480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483700480" } ], "glycoeffect": [], "start_pos": 1043, "end_pos": 1043, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085770", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1043", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781043813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781043813" }, { "id": "rs781043813", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781043813" }, { "id": "rs781043813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781043813" } ], "glycoeffect": [], "start_pos": 1043, "end_pos": 1043, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085771", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1043", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770609906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770609906" }, { "id": "rs770609906", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770609906" }, { "id": "rs770609906", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770609906#frequency_tab" }, { "id": "rs770609906", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770609906" } ], "glycoeffect": [], "start_pos": 1044, "end_pos": 1044, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085768", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1044", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757779114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757779114" }, { "id": "rs757779114", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757779114" }, { "id": "rs757779114", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757779114" } ], "glycoeffect": [], "start_pos": 1046, "end_pos": 1046, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085761", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1046", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1047, "end_pos": 1047, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085758", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1047", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs753232337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753232337" }, { "id": "rs753232337", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753232337" }, { "id": "rs753232337", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753232337#frequency_tab" }, { "id": "rs753232337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753232337" } ], "glycoeffect": [], "start_pos": 1047, "end_pos": 1047, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085758", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1047", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483700342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483700342" } ], "glycoeffect": [], "start_pos": 1048, "end_pos": 1048, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085756", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1048", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1177138412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177138412" }, { "id": "rs1177138412", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1177138412#frequency_tab" }, { "id": "rs1177138412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177138412" }, { "id": "rs1177138412", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1177138412" } ], "glycoeffect": [], "start_pos": 1049, "end_pos": 1049, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085751", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M1049", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2127264531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127264531" }, { "id": "rs2127264531", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127264531" } ], "glycoeffect": [], "start_pos": 1049, "end_pos": 1049, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085753", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "M1049", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779726788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779726788" }, { "id": "rs1779726788", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779726788#frequency_tab" } ], "glycoeffect": [], "start_pos": 1049, "end_pos": 1049, "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085752", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1049", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774066587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774066587" }, { "id": "rs774066587", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774066587" }, { "id": "rs774066587", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774066587#frequency_tab" }, { "id": "rs774066587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774066587" } ], "glycoeffect": [], "start_pos": 104, "end_pos": 104, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097889", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 104, "end_pos": 104, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097888", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R104", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 104, "end_pos": 104, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097888", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R104", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs199737284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199737284" }, { "id": "rs199737284", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199737284" }, { "id": "rs199737284", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199737284#frequency_tab" }, { "id": "rs199737284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199737284" } ], "glycoeffect": [], "start_pos": 1050, "end_pos": 1050, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085750", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1050", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1050, "end_pos": 1050, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085750", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1050", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs561588290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561588290" }, { "id": "rs561588290", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs561588290" } ], "glycoeffect": [], "start_pos": 1051, "end_pos": 1051, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084707", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1051", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196181140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196181140" }, { "id": "rs1196181140", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1196181140#frequency_tab" }, { "id": "rs1196181140", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196181140" } ], "glycoeffect": [], "start_pos": 1052, "end_pos": 1052, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084703", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1052", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1357915072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357915072" }, { "id": "rs1357915072", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1357915072" }, { "id": "rs1357915072", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1357915072" } ], "glycoeffect": [], "start_pos": 1053, "end_pos": 1053, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084701", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1053", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1313934491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1313934491" }, { "id": "rs1313934491", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1313934491" } ], "glycoeffect": [], "start_pos": 1054, "end_pos": 1054, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084698", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252463947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252463947" }, { "id": "rs1252463947", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1252463947#frequency_tab" } ], "glycoeffect": [], "start_pos": 1055, "end_pos": 1055, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084693", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1055", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770570743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770570743" }, { "id": "rs770570743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770570743" }, { "id": "rs770570743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770570743#frequency_tab" }, { "id": "rs770570743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770570743" } ], "glycoeffect": [], "start_pos": 1056, "end_pos": 1056, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084692", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770570743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770570743" }, { "id": "rs770570743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770570743" }, { "id": "rs770570743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770570743#frequency_tab" }, { "id": "rs770570743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770570743" } ], "glycoeffect": [], "start_pos": 1056, "end_pos": 1056, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084692", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772697601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772697601" }, { "id": "rs772697601", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772697601" }, { "id": "rs772697601", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772697601" } ], "glycoeffect": [], "start_pos": 1061, "end_pos": 1061, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084677", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1061", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168385215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168385215" }, { "id": "rs1168385215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168385215" } ], "glycoeffect": [], "start_pos": 1062, "end_pos": 1062, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084673", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1062", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs182750850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182750850" }, { "id": "rs182750850", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182750850" }, { "id": "rs182750850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs182750850" } ], "glycoeffect": [], "start_pos": 1062, "end_pos": 1062, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084674", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P1062", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1476186163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476186163" }, { "id": "rs1476186163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1476186163" } ], "glycoeffect": [], "start_pos": 1063, "end_pos": 1063, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084671", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771591938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771591938" }, { "id": "rs771591938", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771591938" }, { "id": "rs771591938", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771591938#frequency_tab" }, { "id": "rs771591938", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771591938" } ], "glycoeffect": [], "start_pos": 1064, "end_pos": 1064, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084668", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1064", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61995676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61995676" }, { "id": "rs61995676", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61995676" }, { "id": "rs61995676", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61995676" }, { "id": "rs61995676", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61995676#frequency_tab" }, { "id": "rs61995676", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61995676" } ], "glycoeffect": [], "start_pos": 1064, "end_pos": 1064, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084667", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00294349", "site_lbl": "R1064", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252356921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252356921" }, { "id": "rs1252356921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252356921" } ], "glycoeffect": [], "start_pos": 1065, "end_pos": 1065, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084665", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1065", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779435692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779435692" }, { "id": "rs779435692", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779435692" }, { "id": "rs779435692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779435692" } ], "glycoeffect": [], "start_pos": 1067, "end_pos": 1067, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084659", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1067", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779435692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779435692" }, { "id": "rs779435692", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779435692" }, { "id": "rs779435692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779435692" } ], "glycoeffect": [], "start_pos": 1067, "end_pos": 1067, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084659", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1067", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1372767780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372767780" }, { "id": "rs1372767780", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372767780" } ], "glycoeffect": [], "start_pos": 1068, "end_pos": 1068, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084656", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1068", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1476236757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476236757" }, { "id": "rs1476236757", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1476236757" }, { "id": "rs1476236757", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1476236757" } ], "glycoeffect": [], "start_pos": 1068, "end_pos": 1068, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084655", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L1068", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs755472309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755472309" }, { "id": "rs755472309", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755472309" }, { "id": "rs755472309", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755472309#frequency_tab" }, { "id": "rs755472309", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755472309" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1069, "end_pos": 1069, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084652", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0", "site_lbl": "T1069", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755472309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755472309" }, { "id": "rs755472309", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755472309" }, { "id": "rs755472309", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755472309#frequency_tab" }, { "id": "rs755472309", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755472309" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1069, "end_pos": 1069, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084652", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0", "site_lbl": "T1069", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1323446310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323446310" }, { "id": "rs1323446310", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323446310" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1069, "end_pos": 1069, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084653", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1069", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1189846234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1189846234" }, { "id": "rs1189846234", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1189846234#frequency_tab" }, { "id": "rs1189846234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1189846234" }, { "id": "rs1189846234", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1189846234" } ], "glycoeffect": [], "start_pos": 106, "end_pos": 106, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097883", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R106", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1189846234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1189846234" }, { "id": "rs1189846234", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1189846234#frequency_tab" }, { "id": "rs1189846234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1189846234" } ], "glycoeffect": [], "start_pos": 106, "end_pos": 106, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097883", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs543374339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543374339" }, { "id": "rs543374339", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543374339" }, { "id": "rs543374339", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543374339" }, { "id": "rs543374339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs543374339#frequency_tab" }, { "id": "rs543374339", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs543374339" }, { "id": "rs543374339", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543374339" } ], "glycoeffect": [], "start_pos": 106, "end_pos": 106, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097882", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R106", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "rs543374339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543374339" }, { "id": "rs543374339", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543374339" }, { "id": "rs543374339", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543374339" }, { "id": "rs543374339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs543374339#frequency_tab" }, { "id": "rs543374339", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs543374339" } ], "glycoeffect": [], "start_pos": 106, "end_pos": 106, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097882", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1070, "end_pos": 1070, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084650", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1070", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs573740606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573740606" }, { "id": "rs573740606", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs573740606" }, { "id": "rs573740606", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573740606" }, { "id": "rs573740606", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs573740606#frequency_tab" }, { "id": "rs573740606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs573740606" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1071, "end_pos": 1071, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084646", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "T1071", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1071, "end_pos": 1071, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084646", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1071", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs573740606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573740606" }, { "id": "rs573740606", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs573740606" }, { "id": "rs573740606", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573740606" }, { "id": "rs573740606", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs573740606#frequency_tab" }, { "id": "rs573740606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs573740606" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1071, "end_pos": 1071, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084646", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "T1071", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1779667460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779667460" }, { "id": "rs1779667460", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779667460#frequency_tab" } ], "glycoeffect": [], "start_pos": 1072, "end_pos": 1072, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084642", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1072", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1334854526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334854526" }, { "id": "rs1334854526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334854526" } ], "glycoeffect": [], "start_pos": 1073, "end_pos": 1073, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084641", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1073", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1334854526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334854526" }, { "id": "rs1334854526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334854526" } ], "glycoeffect": [], "start_pos": 1073, "end_pos": 1073, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084641", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1073", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1074, "end_pos": 1074, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084637", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1074", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs867358435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867358435" }, { "id": "rs867358435", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867358435" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1074, "end_pos": 1074, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084637", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1074", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202227084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202227084" } ], "glycoeffect": [], "start_pos": 1076, "end_pos": 1076, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084632", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1076", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1779665944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779665944" }, { "id": "rs1779665944", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779665944#frequency_tab" }, { "id": "rs1779665944", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779665944" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1077, "end_pos": 1077, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084628", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1077", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1779665515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779665515" }, { "id": "rs1779665515", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779665515" } ], "glycoeffect": [], "start_pos": 1079, "end_pos": 1079, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084623", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1079", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 107, "end_pos": 107, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097880", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L107", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs751663471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751663471" }, { "id": "rs751663471", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751663471" }, { "id": "rs751663471", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751663471#frequency_tab" }, { "id": "rs751663471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751663471" } ], "glycoeffect": [], "start_pos": 1081, "end_pos": 1081, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084617", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1081", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs533842281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533842281" }, { "id": "rs533842281", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs533842281" }, { "id": "rs533842281", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533842281" }, { "id": "rs533842281", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs533842281#frequency_tab" }, { "id": "rs533842281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs533842281" } ], "glycoeffect": [], "start_pos": 1081, "end_pos": 1081, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084616", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R1081", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463093492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463093492" }, { "id": "rs1463093492", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463093492" } ], "glycoeffect": [], "start_pos": 1082, "end_pos": 1082, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084612", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1082", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1043997789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1043997789" }, { "id": "rs1043997789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1043997789#frequency_tab" }, { "id": "rs1043997789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1043997789" } ], "glycoeffect": [], "start_pos": 1082, "end_pos": 1082, "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084614", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1082", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759556470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759556470" }, { "id": "rs759556470", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759556470" }, { "id": "rs759556470", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759556470#frequency_tab" }, { "id": "rs759556470", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759556470" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1083, "end_pos": 1083, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084610", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1083", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1275855439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275855439" }, { "id": "rs1275855439", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1275855439#frequency_tab" } ], "glycoeffect": [], "start_pos": 1083, "end_pos": 1083, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084611", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1083", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779663287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779663287" }, { "id": "rs1779663287", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779663287" } ], "glycoeffect": [], "start_pos": 1085, "end_pos": 1085, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084604", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1085", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766226155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766226155" }, { "id": "rs766226155", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766226155" }, { "id": "rs766226155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766226155#frequency_tab" }, { "id": "rs766226155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766226155" } ], "glycoeffect": [], "start_pos": 1086, "end_pos": 1086, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084602", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1086", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1087, "end_pos": 1087, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084599", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1087", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs772965421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772965421" }, { "id": "rs772965421", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772965421" }, { "id": "rs772965421", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772965421" } ], "glycoeffect": [], "start_pos": 1088, "end_pos": 1088, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084596", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1088", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1027321958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1027321958" }, { "id": "rs1027321958", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1027321958#frequency_tab" }, { "id": "rs1027321958", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1027321958" } ], "glycoeffect": [], "start_pos": 108, "end_pos": 108, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097875", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779662230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779662230" }, { "id": "rs1779662230", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779662230" } ], "glycoeffect": [], "start_pos": 1090, "end_pos": 1090, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084588", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1090", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs61978561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61978561" }, { "id": "rs61978561", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61978561" }, { "id": "rs61978561", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61978561" }, { "id": "rs61978561", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61978561#frequency_tab" }, { "id": "rs61978561", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61978561" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1091, "end_pos": 1091, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084586", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1091", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs200432719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200432719" }, { "id": "rs200432719", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200432719" }, { "id": "rs200432719", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200432719" }, { "id": "rs200432719", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200432719#frequency_tab" }, { "id": "rs200432719", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200432719" }, { "id": "rs200432719", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200432719" } ], "glycoeffect": [], "start_pos": 1093, "end_pos": 1093, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084581", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1093", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2127261950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127261950" }, { "id": "rs2127261950", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127261950" } ], "glycoeffect": [], "start_pos": 1094, "end_pos": 1094, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084576", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1094", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773838972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773838972" }, { "id": "rs773838972", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773838972" }, { "id": "rs773838972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773838972" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1096, "end_pos": 1096, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084571", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1096", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483693286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483693286" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1096, "end_pos": 1096, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084572", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1096", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764070148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764070148" }, { "id": "11642233", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11642233" }, { "id": "12865992", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12865992" } ], "glycoeffect": [], "start_pos": 1097, "end_pos": 1097, "sequence_org": "K", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084568_32084569", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1097", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1098, "end_pos": 1098, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084566", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1098", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483693167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483693167" } ], "glycoeffect": [], "start_pos": 1099, "end_pos": 1099, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084563", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1099", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483770767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483770767" } ], "glycoeffect": [], "start_pos": 109, "end_pos": 109, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097873", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747624258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747624258" }, { "id": "rs747624258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747624258" }, { "id": "rs747624258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747624258#frequency_tab" }, { "id": "rs747624258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747624258" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098170", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 10, "end_pos": 10, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098171", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S10", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs749807972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749807972" }, { "id": "rs749807972", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749807972" }, { "id": "rs749807972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749807972#frequency_tab" }, { "id": "rs749807972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749807972" } ], "glycoeffect": [], "start_pos": 1100, "end_pos": 1100, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084558", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780388033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780388033" }, { "id": "rs780388033", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780388033" }, { "id": "rs780388033", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780388033#frequency_tab" }, { "id": "rs780388033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780388033" } ], "glycoeffect": [], "start_pos": 1101, "end_pos": 1101, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084557", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1101", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1447724460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447724460" }, { "id": "rs1447724460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447724460" } ], "glycoeffect": [], "start_pos": 1102, "end_pos": 1102, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084552", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127261868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127261868" }, { "id": "rs2127261868", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127261868" } ], "glycoeffect": [], "start_pos": 1106, "end_pos": 1106, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084542", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1107, "end_pos": 1107, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084538", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1107", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2127261845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127261845" }, { "id": "rs2127261845", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127261845" } ], "glycoeffect": [], "start_pos": 1107, "end_pos": 1107, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084539", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1108, "end_pos": 1108, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084535", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1108", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs121912575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912575" }, { "id": "rs121912575", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121912575" }, { "id": "rs121912575", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912575" }, { "id": "rs121912575", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121912575#frequency_tab" }, { "id": "rs121912575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121912575" } ], "glycoeffect": [], "start_pos": 1108, "end_pos": 1108, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084536", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs121912575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912575" }, { "id": "rs121912575", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121912575" }, { "id": "rs121912575", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912575" }, { "id": "rs121912575", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121912575#frequency_tab" }, { "id": "rs121912575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121912575" }, { "id": "15733269", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15733269" }, { "id": "rs121912575", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121912575" } ], "glycoeffect": [], "start_pos": 1108, "end_pos": 1108, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084536", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1108", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs757535646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757535646" }, { "id": "rs757535646", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757535646" }, { "id": "rs757535646", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757535646#frequency_tab" }, { "id": "rs757535646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757535646" } ], "glycoeffect": [], "start_pos": 1109, "end_pos": 1109, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084532", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775630377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775630377" }, { "id": "rs775630377", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775630377" }, { "id": "rs775630377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775630377" } ], "glycoeffect": [], "start_pos": 1109, "end_pos": 1109, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084533", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 110, "end_pos": 110, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097870", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L110", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1110, "end_pos": 1110, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084530", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1110", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs2483692679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483692679" } ], "glycoeffect": [], "start_pos": 1110, "end_pos": 1110, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084529", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1779657498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779657498" }, { "id": "rs1779657498", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779657498#frequency_tab" }, { "id": "rs1779657498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779657498" }, { "id": "rs1779657498", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779657498" } ], "glycoeffect": [], "start_pos": 1111, "end_pos": 1111, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084526", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1111", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1111, "end_pos": 1111, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084527", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1111", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751770127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751770127" }, { "id": "rs751770127", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751770127" }, { "id": "rs751770127", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751770127#frequency_tab" }, { "id": "rs751770127", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751770127" } ], "glycoeffect": [], "start_pos": 1111, "end_pos": 1111, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084527", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1111", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1452792297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1452792297" }, { "id": "rs1452792297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1452792297" } ], "glycoeffect": [], "start_pos": 1112, "end_pos": 1112, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084523", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs367775946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367775946" }, { "id": "rs367775946", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367775946#frequency_tab" }, { "id": "rs367775946", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367775946" } ], "glycoeffect": [], "start_pos": 1113, "end_pos": 1113, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084521", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1113", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs764270756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764270756" }, { "id": "rs764270756", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764270756" }, { "id": "rs764270756", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764270756#frequency_tab" }, { "id": "rs764270756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764270756" } ], "glycoeffect": [], "start_pos": 1113, "end_pos": 1113, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084520", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764270756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764270756" }, { "id": "rs764270756", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764270756" }, { "id": "rs764270756", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764270756#frequency_tab" }, { "id": "rs764270756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764270756" } ], "glycoeffect": [], "start_pos": 1113, "end_pos": 1113, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084520", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758509219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758509219" }, { "id": "rs758509219", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758509219" }, { "id": "rs758509219", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758509219#frequency_tab" }, { "id": "rs758509219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758509219" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1114, "end_pos": 1114, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084517", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562857100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562857100" }, { "id": "rs1562857100", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562857100" } ], "glycoeffect": [], "start_pos": 1115, "end_pos": 1115, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084515", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1115, "end_pos": 1115, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084515", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1115", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs760558082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760558082" }, { "id": "rs760558082", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760558082" }, { "id": "rs760558082", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760558082#frequency_tab" }, { "id": "rs760558082", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760558082" } ], "glycoeffect": [], "start_pos": 1116, "end_pos": 1116, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084512", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760558082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760558082" }, { "id": "rs760558082", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760558082" }, { "id": "rs760558082", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760558082#frequency_tab" }, { "id": "rs760558082", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760558082" } ], "glycoeffect": [], "start_pos": 1116, "end_pos": 1116, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084512", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1206170488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206170488" }, { "id": "rs1206170488", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1206170488" } ], "glycoeffect": [], "start_pos": 1117, "end_pos": 1117, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084509", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1119, "end_pos": 1119, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084502", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1119", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780499321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780499321" }, { "id": "rs1780499321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780499321#frequency_tab" } ], "glycoeffect": [], "start_pos": 111, "end_pos": 111, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097868", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E111", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780499321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780499321" }, { "id": "rs1780499321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780499321#frequency_tab" } ], "glycoeffect": [], "start_pos": 111, "end_pos": 111, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097868", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E111", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373648686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373648686" }, { "id": "rs373648686", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373648686" }, { "id": "rs373648686", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373648686" }, { "id": "rs373648686", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373648686" } ], "glycoeffect": [], "start_pos": 1124, "end_pos": 1124, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084488", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1124", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs773928791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773928791" }, { "id": "rs773928791", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773928791" }, { "id": "rs773928791", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773928791" }, { "id": "rs773928791", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773928791" } ], "glycoeffect": [], "start_pos": 1124, "end_pos": 1124, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084487", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1124", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs61910712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61910712" }, { "id": "rs61910712", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61910712" }, { "id": "rs61910712", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61910712" }, { "id": "rs61910712", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61910712#frequency_tab" }, { "id": "rs61910712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61910712" } ], "glycoeffect": [], "start_pos": 1127, "end_pos": 1127, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084478", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0196232", "site_lbl": "K1127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 112, "end_pos": 112, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097865", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E112", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 112, "end_pos": 112, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097865", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E112", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1328204527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328204527" }, { "id": "rs1328204527", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328204527" } ], "glycoeffect": [], "start_pos": 1130, "end_pos": 1130, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084469", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768297553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768297553" }, { "id": "rs768297553", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs768297553" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1131, "end_pos": 1131, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084466", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779652525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779652525" }, { "id": "rs1779652525", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779652525#frequency_tab" }, { "id": "rs1779652525", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779652525" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1131, "end_pos": 1131, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084467", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1132, "end_pos": 1132, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084463", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1132", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1349938512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349938512" }, { "id": "rs1349938512", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1349938512#frequency_tab" }, { "id": "rs1349938512", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349938512" } ], "glycoeffect": [], "start_pos": 1132, "end_pos": 1132, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084464", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1349938512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349938512" }, { "id": "rs1349938512", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1349938512#frequency_tab" }, { "id": "rs1349938512", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349938512" } ], "glycoeffect": [], "start_pos": 1132, "end_pos": 1132, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084464", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G1132", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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", "germline" ] }, { "evidence": [ { "id": "rs1381525491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1381525491" }, { "id": "rs1381525491", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1381525491" } ], "glycoeffect": [], "start_pos": 1134, "end_pos": 1134, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084458", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779651392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779651392" }, { "id": "rs1779651392", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779651392#frequency_tab" } ], "glycoeffect": [], "start_pos": 1135, "end_pos": 1135, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084455", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1285395327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1285395327" }, { "id": "rs1285395327", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1285395327#frequency_tab" }, { "id": "rs1285395327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1285395327" } ], "glycoeffect": [], "start_pos": 1136, "end_pos": 1136, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084451", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770173982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770173982" }, { "id": "rs770173982", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770173982" }, { "id": "rs770173982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770173982" } ], "glycoeffect": [], "start_pos": 1137, "end_pos": 1137, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084449", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483691715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483691715" } ], "glycoeffect": [], "start_pos": 1138, "end_pos": 1138, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084444", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746315834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746315834" }, { "id": "rs746315834", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746315834" }, { "id": "rs746315834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746315834#frequency_tab" }, { "id": "rs746315834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746315834" } ], "glycoeffect": [], "start_pos": 1139, "end_pos": 1139, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084442", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1139", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149995364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149995364" }, { "id": "rs149995364", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149995364" }, { "id": "rs149995364", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149995364" }, { "id": "rs149995364", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149995364#frequency_tab" }, { "id": "rs149995364", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149995364" }, { "id": "rs149995364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149995364" } ], "glycoeffect": [], "start_pos": 1140, "end_pos": 1140, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32084439", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "0.00879", "site_lbl": "G1140", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1140, "end_pos": 1140, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084439", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1140", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1435025447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1435025447" }, { "id": "rs1435025447", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1435025447" } ], "glycoeffect": [], "start_pos": 1140, "end_pos": 1140, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084440", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs771352294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771352294" }, { "id": "rs771352294", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771352294" }, { "id": "rs771352294", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771352294#frequency_tab" }, { "id": "rs771352294", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771352294" }, { "id": "rs771352294", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771352294" } ], "glycoeffect": [], "start_pos": 1141, "end_pos": 1141, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084436", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1141", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1141, "end_pos": 1141, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084437", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1141", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs965570472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs965570472" }, { "id": "rs965570472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs965570472#frequency_tab" }, { "id": "rs965570472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs965570472" } ], "glycoeffect": [], "start_pos": 1143, "end_pos": 1143, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084431", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779648914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779648914" }, { "id": "rs1779648914", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779648914#frequency_tab" }, { "id": "rs1779648914", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779648914" } ], "glycoeffect": [], "start_pos": 1146, "end_pos": 1146, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084421", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1194548088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194548088" }, { "id": "rs1194548088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194548088" } ], "glycoeffect": [], "start_pos": 1146, "end_pos": 1146, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084422", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1194548088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194548088" }, { "id": "rs1194548088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194548088" } ], "glycoeffect": [], "start_pos": 1146, "end_pos": 1146, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084422", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1147, "end_pos": 1147, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32084417", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1147", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769286386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769286386" }, { "id": "rs769286386", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769286386" }, { "id": "rs769286386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769286386" } ], "glycoeffect": [], "start_pos": 1150, "end_pos": 1150, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082324", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483679351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483679351" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1152, "end_pos": 1152, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082317", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439741377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439741377" }, { "id": "rs1439741377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439741377" } ], "glycoeffect": [], "start_pos": 1154, "end_pos": 1154, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082312", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1154", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1046927909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1046927909" }, { "id": "rs1046927909", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1046927909" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1155, "end_pos": 1155, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082309", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483679222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483679222" } ], "glycoeffect": [], "start_pos": 1155, "end_pos": 1155, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082308", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779515414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779515414" }, { "id": "rs1779515414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779515414" } ], "glycoeffect": [], "start_pos": 1156, "end_pos": 1156, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082306", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1156", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759962141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759962141" }, { "id": "rs759962141", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759962141" }, { "id": "rs759962141", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759962141" }, { "id": "rs759962141", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759962141" } ], "glycoeffect": [], "start_pos": 1157, "end_pos": 1157, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082303", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1157", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779514755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779514755" } ], "glycoeffect": [], "start_pos": 1159, "end_pos": 1159, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082297", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777234685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777234685" }, { "id": "rs777234685", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777234685" }, { "id": "rs777234685", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777234685" } ], "glycoeffect": [], "start_pos": 1159, "end_pos": 1159, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082296", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779514755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779514755" }, { "id": "rs1779514755", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779514755#frequency_tab" }, { "id": "rs1779514755", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779514755" } ], "glycoeffect": [], "start_pos": 1159, "end_pos": 1159, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082297", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs185819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185819" }, { "id": "rs185819", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185819" }, { "id": "rs185819", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185819" }, { "id": "rs185819", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs185819#frequency_tab" }, { "id": "rs185819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs185819" } ], "glycoeffect": [], "start_pos": 1161, "end_pos": 1161, "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082290", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs903196142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs903196142" }, { "id": "rs903196142", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs903196142#frequency_tab" }, { "id": "rs903196142", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs903196142" } ], "glycoeffect": [], "start_pos": 1161, "end_pos": 1161, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082291", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs185819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185819" }, { "id": "rs185819", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185819" }, { "id": "rs185819", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185819" }, { "id": "rs185819", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs185819#frequency_tab" }, { "id": "rs185819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs185819" }, { "id": "rs185819", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185819" } ], "glycoeffect": [], "start_pos": 1161, "end_pos": 1161, "sequence_org": "H", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082290", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1161", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs185819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185819" }, { "id": "rs185819", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185819" }, { "id": "rs185819", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185819" }, { "id": "rs185819", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs185819#frequency_tab" }, { "id": "rs185819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs185819" }, { "id": "rs185819", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185819" } ], "glycoeffect": [], "start_pos": 1161, "end_pos": 1161, "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082290", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1161", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs903196142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs903196142" }, { "id": "rs903196142", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs903196142#frequency_tab" }, { "id": "rs903196142", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs903196142" } ], "glycoeffect": [], "start_pos": 1161, "end_pos": 1161, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082291", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs185207099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185207099" }, { "id": "rs185207099", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185207099" }, { "id": "rs185207099", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185207099" }, { "id": "rs185207099", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs185207099#frequency_tab" }, { "id": "rs185207099", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs185207099" }, { "id": "rs185207099", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185207099" } ], "glycoeffect": [], "start_pos": 1163, "end_pos": 1163, "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082284", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1163", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs2127257051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127257051" }, { "id": "rs2127257051", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127257051" } ], "glycoeffect": [], "start_pos": 1164, "end_pos": 1164, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082282", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs914805218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs914805218" }, { "id": "rs914805218", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs914805218#frequency_tab" } ], "glycoeffect": [], "start_pos": 1167, "end_pos": 1167, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082273", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1167", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127257036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127257036" }, { "id": "rs2127257036", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127257036" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1168, "end_pos": 1168, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082270", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1168", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127257031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127257031" }, { "id": "rs2127257031", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127257031" } ], "glycoeffect": [], "start_pos": 1169, "end_pos": 1169, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082266", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772179236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772179236" }, { "id": "rs772179236", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772179236" }, { "id": "rs772179236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772179236" } ], "glycoeffect": [], "start_pos": 1169, "end_pos": 1169, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082265", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216124530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216124530" }, { "id": "rs1216124530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1216124530#frequency_tab" }, { "id": "rs1216124530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216124530" } ], "glycoeffect": [], "start_pos": 116, "end_pos": 116, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097852", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216124530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216124530" }, { "id": "rs1216124530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1216124530#frequency_tab" }, { "id": "rs1216124530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216124530" } ], "glycoeffect": [], "start_pos": 116, "end_pos": 116, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097852", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780499152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780499152" }, { "id": "rs1780499152", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780499152" } ], "glycoeffect": [], "start_pos": 116, "end_pos": 116, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097853", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216124530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216124530" }, { "id": "rs1216124530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1216124530#frequency_tab" }, { "id": "rs1216124530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216124530" } ], "glycoeffect": [], "start_pos": 116, "end_pos": 116, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097852", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1369354124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1369354124" }, { "id": "rs1369354124", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1369354124#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1171, "end_pos": 1171, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082260", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463608673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463608673" }, { "id": "rs1463608673", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1463608673#frequency_tab" }, { "id": "rs1463608673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463608673" } ], "glycoeffect": [], "start_pos": 1172, "end_pos": 1172, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082258", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778873660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778873660" }, { "id": "rs778873660", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778873660" }, { "id": "rs778873660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778873660#frequency_tab" }, { "id": "rs778873660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778873660" } ], "glycoeffect": [], "start_pos": 1173, "end_pos": 1173, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082255", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779510121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779510121" }, { "id": "rs1779510121", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779510121" } ], "glycoeffect": [], "start_pos": 1176, "end_pos": 1176, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082246", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1176", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1180471389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180471389" }, { "id": "rs1180471389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1180471389" } ], "glycoeffect": [], "start_pos": 1177, "end_pos": 1177, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082243", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1177", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1180471389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180471389" }, { "id": "rs1180471389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1180471389" } ], "glycoeffect": [], "start_pos": 1177, "end_pos": 1177, "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082243", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1177", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1471315134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1471315134" }, { "id": "rs1471315134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1471315134" } ], "glycoeffect": [], "start_pos": 1177, "end_pos": 1177, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082242", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1177", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779509254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779509254" }, { "id": "rs1779509254", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779509254" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1178, "end_pos": 1178, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082239", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755019154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755019154" }, { "id": "rs755019154", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755019154" }, { "id": "rs755019154", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755019154#frequency_tab" }, { "id": "rs755019154", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755019154" } ], "glycoeffect": [], "start_pos": 1179, "end_pos": 1179, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082235", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1179", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127256914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127256914" }, { "id": "rs2127256914", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127256914" } ], "glycoeffect": [], "start_pos": 1180, "end_pos": 1180, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082234", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779508775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779508775" }, { "id": "rs1779508775", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779508775#frequency_tab" } ], "glycoeffect": [], "start_pos": 1181, "end_pos": 1181, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082231", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs541777190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541777190" }, { "id": "rs541777190", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs541777190" }, { "id": "rs541777190", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541777190" }, { "id": "rs541777190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs541777190" }, { "id": "rs541777190", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs541777190" } ], "glycoeffect": [], "start_pos": 1182, "end_pos": 1182, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082228", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "P1182", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs757095620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757095620" }, { "id": "rs757095620", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757095620" }, { "id": "rs757095620", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757095620#frequency_tab" }, { "id": "rs757095620", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757095620" } ], "glycoeffect": [], "start_pos": 1183, "end_pos": 1183, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082223", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1183", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781061300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781061300" }, { "id": "rs781061300", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781061300" }, { "id": "rs781061300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781061300" }, { "id": "rs781061300", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781061300" } ], "glycoeffect": [], "start_pos": 1183, "end_pos": 1183, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082225", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1183", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs113295126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113295126" }, { "id": "rs113295126", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs113295126" } ], "glycoeffect": [], "start_pos": 1186, "end_pos": 1186, "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082215", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1186", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779507551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779507551" }, { "id": "rs1779507551", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779507551#frequency_tab" }, { "id": "rs1779507551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779507551" }, { "id": "rs1779507551", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779507551" } ], "glycoeffect": [], "start_pos": 1186, "end_pos": 1186, "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082214", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1186", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1214298177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214298177" }, { "id": "rs1214298177", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1214298177#frequency_tab" }, { "id": "rs1214298177", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214298177" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1188, "end_pos": 1188, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082209", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1214298177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214298177" }, { "id": "rs1214298177", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1214298177#frequency_tab" }, { "id": "rs1214298177", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214298177" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1188, "end_pos": 1188, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082209", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582442025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582442025" }, { "id": "rs1582442025", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582442025" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1188, "end_pos": 1188, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082210", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763877578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763877578" }, { "id": "rs763877578", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763877578" }, { "id": "rs763877578", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763877578" } ], "glycoeffect": [], "start_pos": 1190, "end_pos": 1190, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082204", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1190", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1225270143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225270143" }, { "id": "rs1225270143", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1225270143#frequency_tab" }, { "id": "rs1225270143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225270143" } ], "glycoeffect": [], "start_pos": 1191, "end_pos": 1191, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082201", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1225270143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225270143" }, { "id": "rs1225270143", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1225270143#frequency_tab" }, { "id": "rs1225270143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225270143" } ], "glycoeffect": [], "start_pos": 1191, "end_pos": 1191, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082201", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779505272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779505272" }, { "id": "rs1779505272", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779505272#frequency_tab" }, { "id": "rs1779505272", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779505272" } ], "glycoeffect": [], "start_pos": 1192, "end_pos": 1192, "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082198", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1192", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779505040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779505040" }, { "id": "rs1779505040", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779505040#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1193, "end_pos": 1193, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082195", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757977761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757977761" }, { "id": "rs757977761", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757977761" }, { "id": "rs757977761", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757977761" } ], "glycoeffect": [], "start_pos": 1194, "end_pos": 1194, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082192", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs981886961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs981886961" }, { "id": "rs981886961", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs981886961" } ], "glycoeffect": [], "start_pos": 1195, "end_pos": 1195, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082189", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752324242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752324242" }, { "id": "rs752324242", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752324242" }, { "id": "rs752324242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752324242" } ], "glycoeffect": [], "start_pos": 1195, "end_pos": 1195, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082188", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs981886961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs981886961" }, { "id": "rs981886961", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs981886961" } ], "glycoeffect": [], "start_pos": 1195, "end_pos": 1195, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082189", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764681855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764681855" }, { "id": "rs764681855", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764681855" }, { "id": "rs764681855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764681855" } ], "glycoeffect": [], "start_pos": 1196, "end_pos": 1196, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082185", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779503596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779503596" }, { "id": "rs1779503596", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779503596" } ], "glycoeffect": [], "start_pos": 1197, "end_pos": 1197, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082182", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1197", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1325952919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325952919" }, { "id": "rs1325952919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325952919" } ], "glycoeffect": [], "start_pos": 1198, "end_pos": 1198, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082179", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1349800834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349800834" }, { "id": "rs1349800834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1349800834#frequency_tab" }, { "id": "rs1349800834", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1349800834" }, { "id": "rs1349800834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349800834" } ], "glycoeffect": [], "start_pos": 1199, "end_pos": 1199, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32082176", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "0.000010", "site_lbl": "R1199", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs1462486516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462486516" }, { "id": "rs1462486516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1462486516" }, { "id": "rs1462486516", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1462486516" } ], "glycoeffect": [], "start_pos": 1199, "end_pos": 1199, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082177", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1199", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 119, "end_pos": 119, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097844", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E119", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1416828643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416828643" }, { "id": "rs1416828643", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1416828643#frequency_tab" }, { "id": "rs1416828643", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416828643" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 11, "end_pos": 11, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098168", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S11", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1416828643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416828643" }, { "id": "rs1416828643", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1416828643#frequency_tab" }, { "id": "rs1416828643", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416828643" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 11, "end_pos": 11, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098168", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S11", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779502101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779502101" }, { "id": "rs1779502101", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779502101" } ], "glycoeffect": [], "start_pos": 1200, "end_pos": 1200, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082173", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779501865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779501865" }, { "id": "rs1779501865", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779501865#frequency_tab" } ], "glycoeffect": [], "start_pos": 1201, "end_pos": 1201, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082171", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1412461827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412461827" }, { "id": "rs1412461827", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412461827#frequency_tab" }, { "id": "rs1412461827", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412461827" } ], "glycoeffect": [], "start_pos": 1201, "end_pos": 1201, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082169", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777320430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777320430" }, { "id": "rs777320430", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777320430" }, { "id": "rs777320430", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777320430" }, { "id": "rs777320430", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777320430" } ], "glycoeffect": [], "start_pos": 1202, "end_pos": 1202, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082168", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1202", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1582441805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582441805" }, { "id": "rs1582441805", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582441805" } ], "glycoeffect": [], "start_pos": 1203, "end_pos": 1203, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082165", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766971902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766971902" }, { "id": "rs766971902", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766971902" }, { "id": "rs766971902", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766971902#frequency_tab" }, { "id": "rs766971902", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766971902" } ], "glycoeffect": [], "start_pos": 1205, "end_pos": 1205, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082159", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127256661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127256661" }, { "id": "rs2127256661", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127256661" }, { "id": "rs2127256661", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2127256661" } ], "glycoeffect": [], "start_pos": 1207, "end_pos": 1207, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082153", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1207", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1268252054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268252054" }, { "id": "rs1268252054", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1268252054#frequency_tab" }, { "id": "rs1268252054", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268252054" } ], "glycoeffect": [], "start_pos": 1209, "end_pos": 1209, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082146", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772414777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772414777" }, { "id": "rs772414777", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772414777" }, { "id": "rs772414777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772414777#frequency_tab" }, { "id": "rs772414777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772414777" } ], "glycoeffect": [], "start_pos": 1209, "end_pos": 1209, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082147", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772414777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772414777" }, { "id": "rs772414777", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772414777" }, { "id": "rs772414777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772414777#frequency_tab" }, { "id": "rs772414777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772414777" } ], "glycoeffect": [], "start_pos": 1209, "end_pos": 1209, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082147", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775116960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775116960" }, { "id": "rs775116960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775116960" }, { "id": "rs775116960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775116960" } ], "glycoeffect": [], "start_pos": 120, "end_pos": 120, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097841", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748330632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748330632" }, { "id": "rs748330632", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748330632" }, { "id": "rs748330632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748330632#frequency_tab" }, { "id": "rs748330632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748330632" } ], "glycoeffect": [], "start_pos": 1210, "end_pos": 1210, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082144", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1194335452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194335452" }, { "id": "rs1194335452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194335452#frequency_tab" }, { "id": "rs1194335452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194335452" }, { "id": "rs1194335452", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1194335452" } ], "glycoeffect": [], "start_pos": 1210, "end_pos": 1210, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082143", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1210", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1194335452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194335452" }, { "id": "rs1194335452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194335452#frequency_tab" }, { "id": "rs1194335452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194335452" } ], "glycoeffect": [], "start_pos": 1210, "end_pos": 1210, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082143", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748330632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748330632" }, { "id": "rs748330632", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748330632" }, { "id": "rs748330632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748330632#frequency_tab" }, { "id": "rs748330632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748330632" } ], "glycoeffect": [], "start_pos": 1210, "end_pos": 1210, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082144", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582441689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582441689" }, { "id": "rs1582441689", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582441689" } ], "glycoeffect": [], "start_pos": 1213, "end_pos": 1213, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082134", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774582576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774582576" }, { "id": "rs774582576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774582576" }, { "id": "rs774582576", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774582576#frequency_tab" }, { "id": "rs774582576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774582576" } ], "glycoeffect": [], "start_pos": 1213, "end_pos": 1213, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082135", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774582576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774582576" }, { "id": "rs774582576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774582576" }, { "id": "rs774582576", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774582576#frequency_tab" }, { "id": "rs774582576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774582576" } ], "glycoeffect": [], "start_pos": 1213, "end_pos": 1213, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082135", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244913427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244913427" }, { "id": "rs1244913427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244913427" } ], "glycoeffect": [], "start_pos": 1214, "end_pos": 1214, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082132", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779497979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779497979" }, { "id": "rs1779497979", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779497979#frequency_tab" }, { "id": "rs1779497979", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779497979" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1215, "end_pos": 1215, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082128", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779497711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779497711" }, { "id": "rs1779497711", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779497711" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1216, "end_pos": 1216, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082125", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779497460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779497460" }, { "id": "rs1779497460", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779497460#frequency_tab" } ], "glycoeffect": [], "start_pos": 1217, "end_pos": 1217, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082123", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs138300355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138300355" }, { "id": "rs138300355", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138300355" }, { "id": "rs138300355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138300355" }, { "id": "rs138300355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138300355#frequency_tab" }, { "id": "rs138300355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138300355" } ], "glycoeffect": [], "start_pos": 1218, "end_pos": 1218, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082118", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00156986", "site_lbl": "D1218", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779497133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779497133" }, { "id": "rs1779497133", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779497133#frequency_tab" } ], "glycoeffect": [], "start_pos": 1218, "end_pos": 1218, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082120", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1218", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749332638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749332638" }, { "id": "rs749332638", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749332638" }, { "id": "rs749332638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749332638" } ], "glycoeffect": [], "start_pos": 1219, "end_pos": 1219, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082117", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757169367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757169367" }, { "id": "rs757169367", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757169367" }, { "id": "rs757169367", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757169367#frequency_tab" }, { "id": "rs757169367", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757169367" } ], "glycoeffect": [], "start_pos": 1220, "end_pos": 1220, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082113", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1220", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779496382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779496382" }, { "id": "rs1779496382", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779496382" } ], "glycoeffect": [], "start_pos": 1220, "end_pos": 1220, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082114", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1220", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757169367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757169367" }, { "id": "rs757169367", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757169367" }, { "id": "rs757169367", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757169367#frequency_tab" }, { "id": "rs757169367", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757169367" } ], "glycoeffect": [], "start_pos": 1220, "end_pos": 1220, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082113", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1220", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746868657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746868657" }, { "id": "rs746868657", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746868657" }, { "id": "rs746868657", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746868657" } ], "glycoeffect": [], "start_pos": 1221, "end_pos": 1221, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082110", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746868657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746868657" }, { "id": "rs746868657", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746868657" }, { "id": "rs746868657", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746868657" } ], "glycoeffect": [], "start_pos": 1221, "end_pos": 1221, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082110", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199977034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199977034" }, { "id": "rs199977034", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199977034" }, { "id": "rs199977034", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199977034#frequency_tab" }, { "id": "rs199977034", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199977034" } ], "glycoeffect": [], "start_pos": 1222, "end_pos": 1222, "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082107", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1303576995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303576995" }, { "id": "rs1303576995", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1303576995#frequency_tab" }, { "id": "rs1303576995", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303576995" } ], "glycoeffect": [], "start_pos": 1224, "end_pos": 1224, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082102", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758166373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758166373" }, { "id": "rs758166373", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758166373" }, { "id": "rs758166373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758166373" } ], "glycoeffect": [], "start_pos": 1225, "end_pos": 1225, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082097", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364802258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364802258" }, { "id": "rs1364802258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1364802258#frequency_tab" }, { "id": "rs1364802258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364802258" } ], "glycoeffect": [], "start_pos": 1227, "end_pos": 1227, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082093", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1292326989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292326989" }, { "id": "rs1292326989", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292326989" } ], "glycoeffect": [], "start_pos": 1227, "end_pos": 1227, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082092", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1346211489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346211489" }, { "id": "rs1346211489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346211489" } ], "glycoeffect": [], "start_pos": 1228, "end_pos": 1228, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082089", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1158386100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1158386100" }, { "id": "rs1158386100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1158386100" } ], "glycoeffect": [], "start_pos": 1229, "end_pos": 1229, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082087", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1229", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1411732850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411732850" }, { "id": "rs1411732850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1411732850#frequency_tab" }, { "id": "rs1411732850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411732850" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 122, "end_pos": 122, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097835", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1411732850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411732850" }, { "id": "rs1411732850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1411732850#frequency_tab" }, { "id": "rs1411732850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411732850" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 122, "end_pos": 122, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097835", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752326127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752326127" }, { "id": "rs752326127", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752326127" }, { "id": "rs752326127", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752326127" } ], "glycoeffect": [], "start_pos": 1230, "end_pos": 1230, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082083", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1230", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs146399029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146399029" }, { "id": "rs146399029", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146399029" }, { "id": "rs146399029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146399029" }, { "id": "rs146399029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146399029#frequency_tab" }, { "id": "rs146399029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146399029" } ], "glycoeffect": [], "start_pos": 1231, "end_pos": 1231, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082080", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A1231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs146399029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146399029" }, { "id": "rs146399029", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146399029" }, { "id": "rs146399029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146399029" }, { "id": "rs146399029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146399029#frequency_tab" }, { "id": "rs146399029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146399029" } ], "glycoeffect": [], "start_pos": 1231, "end_pos": 1231, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082080", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A1231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs146399029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146399029" }, { "id": "rs146399029", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146399029" }, { "id": "rs146399029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146399029" }, { "id": "rs146399029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146399029#frequency_tab" }, { "id": "rs146399029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146399029" }, { "id": "rs146399029", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146399029" } ], "glycoeffect": [], "start_pos": 1231, "end_pos": 1231, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082080", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A1231", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs899663568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs899663568" }, { "id": "rs899663568", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs899663568" } ], "glycoeffect": [], "start_pos": 1235, "end_pos": 1235, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082068", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754586168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754586168" }, { "id": "rs754586168", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754586168" }, { "id": "rs754586168", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754586168" }, { "id": "rs754586168", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754586168#frequency_tab" }, { "id": "rs754586168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754586168" } ], "glycoeffect": [], "start_pos": 1235, "end_pos": 1235, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082069", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0", "site_lbl": "R1235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216307507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216307507" }, { "id": "rs1216307507", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1216307507#frequency_tab" }, { "id": "rs1216307507", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216307507" } ], "glycoeffect": [], "start_pos": 1237, "end_pos": 1237, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082062", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216307507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216307507" }, { "id": "rs1216307507", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1216307507#frequency_tab" }, { "id": "rs1216307507", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216307507" } ], "glycoeffect": [], "start_pos": 1237, "end_pos": 1237, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082062", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1486134966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486134966" }, { "id": "rs1486134966", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1486134966#frequency_tab" }, { "id": "rs1486134966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486134966" } ], "glycoeffect": [], "start_pos": 1237, "end_pos": 1237, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082063", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1214157253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214157253" }, { "id": "rs1214157253", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214157253" } ], "glycoeffect": [], "start_pos": 1238, "end_pos": 1238, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082059", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1262284533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262284533" }, { "id": "rs1262284533", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262284533" } ], "glycoeffect": [], "start_pos": 1238, "end_pos": 1238, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082060", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1019829216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019829216" }, { "id": "rs1019829216", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1019829216#frequency_tab" }, { "id": "rs1019829216", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1019829216" } ], "glycoeffect": [], "start_pos": 1239, "end_pos": 1239, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082057", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1239", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1397478440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397478440" }, { "id": "rs1397478440", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1397478440#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1240, "end_pos": 1240, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082054", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1240", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280608503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280608503" }, { "id": "rs1280608503", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1280608503#frequency_tab" }, { "id": "rs1280608503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280608503" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1240, "end_pos": 1240, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082053", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1240", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs576485554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576485554" }, { "id": "rs576485554", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs576485554" }, { "id": "rs576485554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs576485554" } ], "glycoeffect": [], "start_pos": 1241, "end_pos": 1241, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082050", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A1241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773796746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773796746" }, { "id": "rs773796746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773796746" }, { "id": "rs773796746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773796746#frequency_tab" }, { "id": "rs773796746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773796746" } ], "glycoeffect": [], "start_pos": 1242, "end_pos": 1242, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082048", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs558240500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558240500" }, { "id": "rs558240500", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs558240500" }, { "id": "rs558240500", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558240500" }, { "id": "rs558240500", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs558240500#frequency_tab" }, { "id": "rs558240500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs558240500" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1244, "end_pos": 1244, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082041", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T1244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs558240500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558240500" }, { "id": "rs558240500", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs558240500" }, { "id": "rs558240500", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558240500" }, { "id": "rs558240500", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs558240500#frequency_tab" }, { "id": "rs558240500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs558240500" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1244, "end_pos": 1244, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082041", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T1244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767794379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767794379" }, { "id": "rs767794379", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767794379" }, { "id": "rs767794379", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767794379#frequency_tab" }, { "id": "rs767794379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767794379" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1244, "end_pos": 1244, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082042", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1377610482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377610482" }, { "id": "rs1377610482", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1377610482#frequency_tab" }, { "id": "rs1377610482", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377610482" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1245, "end_pos": 1245, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082038", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1245", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1377610482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377610482" }, { "id": "rs1377610482", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1377610482#frequency_tab" }, { "id": "rs1377610482", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377610482" } ], "glycoeffect": [], "start_pos": 1245, "end_pos": 1245, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082038", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1245", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1303665712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303665712" }, { "id": "rs1303665712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303665712" } ], "glycoeffect": [], "start_pos": 1246, "end_pos": 1246, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082036", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1246", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1329365278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329365278" }, { "id": "rs1329365278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329365278" } ], "glycoeffect": [], "start_pos": 1246, "end_pos": 1246, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081673", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1246", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753475458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753475458" }, { "id": "rs753475458", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753475458" }, { "id": "rs753475458", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753475458" } ], "glycoeffect": [], "start_pos": 1248, "end_pos": 1248, "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081666", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1248", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1371252877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371252877" }, { "id": "rs1371252877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371252877" } ], "glycoeffect": [], "start_pos": 1248, "end_pos": 1248, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081667", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1248", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463010437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463010437" }, { "id": "rs1463010437", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463010437" }, { "id": "rs1463010437", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1463010437" } ], "glycoeffect": [], "start_pos": 1248, "end_pos": 1248, "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081668", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1248", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs529991443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529991443" }, { "id": "rs529991443", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529991443" }, { "id": "rs529991443", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs529991443#frequency_tab" }, { "id": "rs529991443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529991443" } ], "glycoeffect": [], "start_pos": 1249, "end_pos": 1249, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081664", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R1249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780497714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780497714" }, { "id": "rs1780497714", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780497714#frequency_tab" } ], "glycoeffect": [], "start_pos": 124, "end_pos": 124, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097828", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1456225760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1456225760" }, { "id": "rs1456225760", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1456225760" } ], "glycoeffect": [], "start_pos": 1250, "end_pos": 1250, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081661", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1250", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1365273632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365273632" }, { "id": "rs1365273632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1365273632" } ], "glycoeffect": [], "start_pos": 1251, "end_pos": 1251, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081659", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779724516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779724516" }, { "id": "rs779724516", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779724516" }, { "id": "rs779724516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779724516#frequency_tab" }, { "id": "rs779724516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779724516" } ], "glycoeffect": [], "start_pos": 1252, "end_pos": 1252, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081654", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1438661354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1438661354" }, { "id": "rs1438661354", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1438661354#frequency_tab" }, { "id": "rs1438661354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1438661354" } ], "glycoeffect": [], "start_pos": 1253, "end_pos": 1253, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081653", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs188789382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188789382" }, { "id": "rs188789382", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188789382" }, { "id": "rs188789382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188789382" }, { "id": "rs188789382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188789382#frequency_tab" }, { "id": "rs188789382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188789382" } ], "glycoeffect": [], "start_pos": 1253, "end_pos": 1253, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081652", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00137363", "site_lbl": "P1253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs188789382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188789382" }, { "id": "rs188789382", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188789382" }, { "id": "rs188789382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188789382" }, { "id": "rs188789382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188789382#frequency_tab" }, { "id": "rs188789382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188789382" } ], "glycoeffect": [], "start_pos": 1253, "end_pos": 1253, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081652", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00137363", "site_lbl": "P1253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs188789382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188789382" }, { "id": "rs188789382", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188789382" }, { "id": "rs188789382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188789382" }, { "id": "rs188789382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188789382#frequency_tab" }, { "id": "rs188789382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188789382" } ], "glycoeffect": [], "start_pos": 1253, "end_pos": 1253, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081652", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.00137363", "site_lbl": "P1253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1438661354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1438661354" }, { "id": "rs1438661354", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1438661354#frequency_tab" }, { "id": "rs1438661354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1438661354" } ], "glycoeffect": [], "start_pos": 1253, "end_pos": 1253, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081653", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762130701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762130701" }, { "id": "rs762130701", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762130701" }, { "id": "rs762130701", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762130701#frequency_tab" }, { "id": "rs762130701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762130701" } ], "glycoeffect": [], "start_pos": 1254, "end_pos": 1254, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081649", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1254", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762130701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762130701" }, { "id": "rs762130701", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762130701" }, { "id": "rs762130701", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762130701#frequency_tab" }, { "id": "rs762130701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762130701" } ], "glycoeffect": [], "start_pos": 1254, "end_pos": 1254, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081649", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1254", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762130701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762130701" }, { "id": "rs762130701", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762130701" }, { "id": "rs762130701", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762130701#frequency_tab" }, { "id": "rs762130701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762130701" } ], "glycoeffect": [], "start_pos": 1254, "end_pos": 1254, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081649", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1254", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs1779453366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779453366" }, { "id": "rs1779453366", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779453366#frequency_tab" } ], "glycoeffect": [], "start_pos": 1254, "end_pos": 1254, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081650", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1254", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376472382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376472382" }, { "id": "rs376472382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376472382" }, { "id": "rs376472382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376472382#frequency_tab" }, { "id": "rs376472382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376472382" }, { "id": "rs376472382", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376472382" } ], "glycoeffect": [], "start_pos": 1255, "end_pos": 1255, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081647", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1255", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2127255245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127255245" } ], "glycoeffect": [], "start_pos": 1255, "end_pos": 1255, "sequence_org": "R", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081646_32081647delin", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1255", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376472382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376472382" }, { "id": "rs376472382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376472382" }, { "id": "rs376472382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376472382#frequency_tab" }, { "id": "rs376472382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376472382" } ], "glycoeffect": [], "start_pos": 1255, "end_pos": 1255, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081647", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1255", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs12211410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12211410" }, { "id": "rs12211410", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs12211410" }, { "id": "rs12211410", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12211410" }, { "id": "rs12211410", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs12211410#frequency_tab" }, { "id": "rs12211410", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs12211410" } ], "glycoeffect": [], "start_pos": 1255, "end_pos": 1255, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081646", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0985086", "site_lbl": "R1255", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs12211410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12211410" }, { "id": "rs12211410", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs12211410" }, { "id": "rs12211410", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12211410" }, { "id": "rs12211410", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs12211410#frequency_tab" }, { "id": "rs12211410", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs12211410" } ], "glycoeffect": [], "start_pos": 1255, "end_pos": 1255, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081646", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0985086", "site_lbl": "R1255", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376472382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376472382" }, { "id": "rs376472382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376472382" }, { "id": "rs376472382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376472382#frequency_tab" }, { "id": "rs376472382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376472382" }, { "id": "rs376472382", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376472382" } ], "glycoeffect": [], "start_pos": 1255, "end_pos": 1255, "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081647", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1255", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2127255245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127255245" } ], "glycoeffect": [], "start_pos": 1255, "end_pos": 1255, "sequence_org": "R", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081646_32081647delin", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1255", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765028734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765028734" } ], "glycoeffect": [], "start_pos": 1255, "end_pos": 1255, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081653", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1255", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1262845873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262845873" }, { "id": "rs1262845873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262845873" } ], "glycoeffect": [], "start_pos": 1256, "end_pos": 1256, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081644", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779451007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779451007" }, { "id": "rs1779451007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779451007" } ], "glycoeffect": [], "start_pos": 1256, "end_pos": 1256, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081643", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1262845873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262845873" }, { "id": "rs1262845873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262845873" } ], "glycoeffect": [], "start_pos": 1256, "end_pos": 1256, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081644", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs908327210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs908327210" }, { "id": "rs908327210", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs908327210" } ], "glycoeffect": [], "start_pos": 1257, "end_pos": 1257, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081639", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1257", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779450766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779450766" }, { "id": "rs1779450766", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779450766" } ], "glycoeffect": [], "start_pos": 1257, "end_pos": 1257, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081641", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1257", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772034728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772034728" }, { "id": "rs772034728", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772034728" }, { "id": "rs772034728", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772034728#frequency_tab" }, { "id": "rs772034728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772034728" } ], "glycoeffect": [], "start_pos": 1257, "end_pos": 1257, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081640", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1257", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770463109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770463109" }, { "id": "rs770463109", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770463109" }, { "id": "rs770463109", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770463109#frequency_tab" }, { "id": "rs770463109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770463109" } ], "glycoeffect": [], "start_pos": 125, "end_pos": 125, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097825", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C125", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1307248598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307248598" }, { "id": "rs1307248598", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1307248598#frequency_tab" }, { "id": "rs1307248598", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307248598" } ], "glycoeffect": [], "start_pos": 1260, "end_pos": 1260, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081632", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1260", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747962258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747962258" }, { "id": "rs747962258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747962258" } ], "glycoeffect": [], "start_pos": 1262, "end_pos": 1262, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081625", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1262", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1418667724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418667724" }, { "id": "rs1418667724", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1418667724#frequency_tab" }, { "id": "rs1418667724", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1418667724" } ], "glycoeffect": [], "start_pos": 1262, "end_pos": 1262, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081626", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1262", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779448306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779448306" }, { "id": "rs1779448306", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779448306" } ], "glycoeffect": [], "start_pos": 1263, "end_pos": 1263, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081623", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1263", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1311184703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311184703" }, { "id": "rs1311184703", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1311184703#frequency_tab" } ], "glycoeffect": [], "start_pos": 1265, "end_pos": 1265, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081616", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1265", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779447100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779447100" }, { "id": "rs1779447100", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779447100#frequency_tab" } ], "glycoeffect": [], "start_pos": 1266, "end_pos": 1266, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081614", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1266", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1386918013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386918013" }, { "id": "rs1386918013", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386918013" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1270, "end_pos": 1270, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081601", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1270", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755723728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755723728" }, { "id": "rs755723728", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755723728" }, { "id": "rs755723728", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755723728#frequency_tab" }, { "id": "rs755723728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755723728" } ], "glycoeffect": [], "start_pos": 1271, "end_pos": 1271, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081599", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749925578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749925578" }, { "id": "rs749925578", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749925578" }, { "id": "rs749925578", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749925578#frequency_tab" }, { "id": "rs749925578", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749925578" }, { "id": "rs749925578", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749925578" } ], "glycoeffect": [], "start_pos": 1272, "end_pos": 1272, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081596", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1272", "keywords": [ "ebi", "somatic", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ] }, { "evidence": [ { "id": "rs1228236916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228236916" }, { "id": "rs1228236916", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1228236916#frequency_tab" }, { "id": "rs1228236916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228236916" } ], "glycoeffect": [], "start_pos": 1274, "end_pos": 1274, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081589", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582439743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582439743" }, { "id": "rs1582439743", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582439743" } ], "glycoeffect": [], "start_pos": 1274, "end_pos": 1274, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081590", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1376530498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376530498" }, { "id": "rs1376530498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1376530498" } ], "glycoeffect": [], "start_pos": 1275, "end_pos": 1275, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081585", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1275", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1342196320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342196320" }, { "id": "rs1342196320", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1342196320#frequency_tab" }, { "id": "rs1342196320", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342196320" }, { "id": "rs1342196320", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1342196320" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1276, "end_pos": 1276, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081583", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1276", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs879263799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879263799" }, { "id": "rs879263799", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs879263799#frequency_tab" }, { "id": "rs879263799", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs879263799" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1276, "end_pos": 1276, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081584", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1276", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs370069053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370069053" }, { "id": "rs370069053", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370069053" }, { "id": "rs370069053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370069053#frequency_tab" }, { "id": "rs370069053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370069053" }, { "id": "rs370069053", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs370069053" } ], "glycoeffect": [], "start_pos": 1278, "end_pos": 1278, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081578", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1278", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs368042869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368042869" }, { "id": "rs368042869", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368042869" }, { "id": "rs368042869", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368042869" }, { "id": "rs368042869", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368042869#frequency_tab" }, { "id": "rs368042869", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368042869" }, { "id": "rs368042869", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368042869" } ], "glycoeffect": [], "start_pos": 1278, "end_pos": 1278, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081577", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1278", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs368042869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368042869" }, { "id": "rs368042869", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368042869" }, { "id": "rs368042869", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368042869" }, { "id": "rs368042869", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368042869#frequency_tab" }, { "id": "rs368042869", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368042869" } ], "glycoeffect": [], "start_pos": 1278, "end_pos": 1278, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081577", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1278", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370069053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370069053" }, { "id": "rs370069053", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370069053" }, { "id": "rs370069053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370069053#frequency_tab" }, { "id": "rs370069053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370069053" } ], "glycoeffect": [], "start_pos": 1278, "end_pos": 1278, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081578", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1278", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1033737079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1033737079" }, { "id": "rs1033737079", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1033737079#frequency_tab" }, { "id": "rs1033737079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1033737079" }, { "id": "rs1033737079", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1033737079" } ], "glycoeffect": [], "start_pos": 1279, "end_pos": 1279, "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081575", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1279", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1033737079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1033737079" }, { "id": "rs1033737079", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1033737079#frequency_tab" }, { "id": "rs1033737079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1033737079" } ], "glycoeffect": [], "start_pos": 1279, "end_pos": 1279, "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081575", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1279", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746370739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746370739" }, { "id": "rs746370739", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746370739" }, { "id": "rs746370739", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746370739#frequency_tab" }, { "id": "rs746370739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746370739" } ], "glycoeffect": [], "start_pos": 127, "end_pos": 127, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097820", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776915229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776915229" }, { "id": "rs776915229", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776915229" }, { "id": "rs776915229", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776915229" } ], "glycoeffect": [], "start_pos": 127, "end_pos": 127, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097819", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 127, "end_pos": 127, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097820", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P127", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs752960555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752960555" }, { "id": "rs752960555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752960555" }, { "id": "rs752960555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752960555" } ], "glycoeffect": [], "start_pos": 1281, "end_pos": 1281, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081568", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763267654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763267654" }, { "id": "rs763267654", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763267654" }, { "id": "rs763267654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763267654" } ], "glycoeffect": [], "start_pos": 1281, "end_pos": 1281, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081569", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779440934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779440934" } ], "glycoeffect": [], "start_pos": 1283, "end_pos": 1283, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081563", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1283", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779440934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779440934" }, { "id": "rs1779440934", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779440934#frequency_tab" } ], "glycoeffect": [], "start_pos": 1283, "end_pos": 1283, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081563", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1283", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764901394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764901394" }, { "id": "rs764901394", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764901394#frequency_tab" }, { "id": "rs764901394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764901394" } ], "glycoeffect": [], "start_pos": 1285, "end_pos": 1285, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081556", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1285", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765426065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765426065" }, { "id": "rs765426065", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765426065" }, { "id": "rs765426065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765426065" } ], "glycoeffect": [], "start_pos": 1286, "end_pos": 1286, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081553", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1286", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1231064005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231064005" }, { "id": "rs1231064005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1231064005#frequency_tab" }, { "id": "rs1231064005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1231064005" } ], "glycoeffect": [], "start_pos": 1287, "end_pos": 1287, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081551", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1287", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1231064005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231064005" }, { "id": "rs1231064005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1231064005#frequency_tab" }, { "id": "rs1231064005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1231064005" } ], "glycoeffect": [], "start_pos": 1287, "end_pos": 1287, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081551", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1287", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs574036721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574036721" }, { "id": "rs574036721", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574036721" }, { "id": "rs574036721", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs574036721#frequency_tab" }, { "id": "rs574036721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574036721" } ], "glycoeffect": [], "start_pos": 1288, "end_pos": 1288, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081546", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1288", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1328111155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328111155" }, { "id": "rs1328111155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328111155" } ], "glycoeffect": [], "start_pos": 1288, "end_pos": 1288, "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081548", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1288", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562879346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562879346" }, { "id": "rs1562879346", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562879346" } ], "glycoeffect": [], "start_pos": 128, "end_pos": 128, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097816", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779438824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779438824" }, { "id": "rs1779438824", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779438824#frequency_tab" }, { "id": "rs1779438824", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779438824" } ], "glycoeffect": [], "start_pos": 1291, "end_pos": 1291, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081537", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1358344515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1358344515" }, { "id": "rs1358344515", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1358344515#frequency_tab" }, { "id": "rs1358344515", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1358344515" } ], "glycoeffect": [], "start_pos": 1292, "end_pos": 1292, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081534", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779437527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779437527" }, { "id": "rs1779437527", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779437527" } ], "glycoeffect": [], "start_pos": 1292, "end_pos": 1292, "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081535", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776770497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776770497" }, { "id": "rs776770497", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776770497" }, { "id": "rs776770497", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776770497#frequency_tab" }, { "id": "rs776770497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776770497" } ], "glycoeffect": [], "start_pos": 1292, "end_pos": 1292, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081536", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776770497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776770497" }, { "id": "rs776770497", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776770497" }, { "id": "rs776770497", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776770497#frequency_tab" }, { "id": "rs776770497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776770497" } ], "glycoeffect": [], "start_pos": 1292, "end_pos": 1292, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081536", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1414662938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414662938" }, { "id": "rs1414662938", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1414662938" } ], "glycoeffect": [], "start_pos": 1294, "end_pos": 1294, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081529", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770850741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770850741" }, { "id": "rs770850741", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770850741" }, { "id": "rs770850741", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770850741#frequency_tab" }, { "id": "rs770850741", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770850741" } ], "glycoeffect": [], "start_pos": 1296, "end_pos": 1296, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081524", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1296", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1477360342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477360342" }, { "id": "rs1477360342", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1477360342#frequency_tab" }, { "id": "rs1477360342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477360342" } ], "glycoeffect": [], "start_pos": 1297, "end_pos": 1297, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081521", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1297", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs964015109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs964015109" }, { "id": "rs964015109", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs964015109" } ], "glycoeffect": [], "start_pos": 1299, "end_pos": 1299, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081514", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 129, "end_pos": 129, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097813", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S129", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1194946992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194946992" }, { "id": "rs1194946992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194946992" } ], "glycoeffect": [], "start_pos": 1301, "end_pos": 1301, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081509", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1301", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs912454032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs912454032" }, { "id": "rs912454032", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs912454032" } ], "glycoeffect": [], "start_pos": 1301, "end_pos": 1301, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081507", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1301", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761823492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761823492" }, { "id": "rs761823492", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761823492" }, { "id": "rs761823492", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761823492#frequency_tab" }, { "id": "rs761823492", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761823492" } ], "glycoeffect": [], "start_pos": 1302, "end_pos": 1302, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081505", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1302", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774381322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774381322" }, { "id": "rs774381322", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774381322" }, { "id": "rs774381322", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774381322" } ], "glycoeffect": [], "start_pos": 1303, "end_pos": 1303, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081503", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1303", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562851618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562851618" } ], "glycoeffect": [], "start_pos": 1303, "end_pos": 1303, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081502", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1303", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1779433327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779433327" }, { "id": "rs1779433327", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779433327" } ], "glycoeffect": [], "start_pos": 1304, "end_pos": 1304, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081499", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1304", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212558739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212558739" }, { "id": "rs1212558739", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1212558739#frequency_tab" }, { "id": "rs1212558739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212558739" } ], "glycoeffect": [], "start_pos": 1304, "end_pos": 1304, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081500", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1304", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212558739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212558739" }, { "id": "rs1212558739", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1212558739#frequency_tab" }, { "id": "rs1212558739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212558739" } ], "glycoeffect": [], "start_pos": 1304, "end_pos": 1304, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081500", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1304", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1198812392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198812392" }, { "id": "rs1198812392", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1198812392" } ], "glycoeffect": [], "start_pos": 1306, "end_pos": 1306, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081493", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1306", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768602702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768602702" }, { "id": "rs768602702", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768602702" }, { "id": "rs768602702", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768602702#frequency_tab" }, { "id": "rs768602702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768602702" } ], "glycoeffect": [], "start_pos": 1306, "end_pos": 1306, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081494", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1306", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370444721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370444721" }, { "id": "rs370444721", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370444721#frequency_tab" }, { "id": "rs370444721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370444721" } ], "glycoeffect": [], "start_pos": 1307, "end_pos": 1307, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081491", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749058728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749058728" }, { "id": "rs749058728", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749058728" }, { "id": "rs749058728", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749058728#frequency_tab" }, { "id": "rs749058728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749058728" }, { "id": "rs749058728", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749058728" } ], "glycoeffect": [], "start_pos": 1308, "end_pos": 1308, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081487", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1308", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs769553878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769553878" }, { "id": "rs769553878", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769553878" }, { "id": "rs769553878", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769553878#frequency_tab" }, { "id": "rs769553878", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769553878" } ], "glycoeffect": [], "start_pos": 1309, "end_pos": 1309, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081484", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1309", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1339074585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339074585" }, { "id": "rs1339074585", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1339074585#frequency_tab" } ], "glycoeffect": [], "start_pos": 130, "end_pos": 130, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097810", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771337502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771337502" }, { "id": "rs771337502", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771337502" }, { "id": "rs771337502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771337502" } ], "glycoeffect": [], "start_pos": 130, "end_pos": 130, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097811", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1339074585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339074585" }, { "id": "rs1339074585", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1339074585#frequency_tab" } ], "glycoeffect": [], "start_pos": 130, "end_pos": 130, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097810", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779430602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779430602" }, { "id": "rs1779430602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779430602#frequency_tab" }, { "id": "rs1779430602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779430602" } ], "glycoeffect": [], "start_pos": 1310, "end_pos": 1310, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081481", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779430825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779430825" }, { "id": "rs1779430825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779430825" } ], "glycoeffect": [], "start_pos": 1310, "end_pos": 1310, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081482", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1294871605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294871605" }, { "id": "rs1294871605", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294871605" } ], "glycoeffect": [], "start_pos": 1311, "end_pos": 1311, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081479", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1311", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1294871605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294871605" } ], "glycoeffect": [], "start_pos": 1311, "end_pos": 1311, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081479", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1311", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780754411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780754411" }, { "id": "rs780754411", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780754411" }, { "id": "rs780754411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780754411#frequency_tab" }, { "id": "rs780754411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780754411" } ], "glycoeffect": [], "start_pos": 1314, "end_pos": 1314, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081469", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs557311390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557311390" }, { "id": "rs557311390", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557311390" }, { "id": "rs557311390", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557311390" }, { "id": "rs557311390", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs557311390#frequency_tab" }, { "id": "rs557311390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557311390" } ], "glycoeffect": [], "start_pos": 1314, "end_pos": 1314, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081470", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "V1314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127254498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127254498" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1315, "end_pos": 1315, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081469", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1315", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs1400345607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400345607" }, { "id": "rs1400345607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1400345607" } ], "glycoeffect": [], "start_pos": 1316, "end_pos": 1316, "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081463", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1316", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127254476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127254476" }, { "id": "rs2127254476", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127254476" } ], "glycoeffect": [], "start_pos": 1316, "end_pos": 1316, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081464", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1316", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778225501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778225501" }, { "id": "rs778225501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778225501" }, { "id": "rs778225501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778225501#frequency_tab" }, { "id": "rs778225501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778225501" } ], "glycoeffect": [], "start_pos": 1317, "end_pos": 1317, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081461", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1317", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs536142838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536142838" }, { "id": "rs536142838", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536142838" }, { "id": "rs536142838", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536142838" }, { "id": "rs536142838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs536142838#frequency_tab" }, { "id": "rs536142838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536142838" } ], "glycoeffect": [], "start_pos": 1318, "end_pos": 1318, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081458", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G1318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs536142838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536142838" }, { "id": "rs536142838", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536142838" }, { "id": "rs536142838", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536142838" }, { "id": "rs536142838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs536142838#frequency_tab" }, { "id": "rs536142838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536142838" } ], "glycoeffect": [], "start_pos": 1318, "end_pos": 1318, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081458", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G1318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs536142838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536142838" }, { "id": "rs536142838", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536142838" }, { "id": "rs536142838", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536142838" }, { "id": "rs536142838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs536142838#frequency_tab" }, { "id": "rs536142838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536142838" } ], "glycoeffect": [], "start_pos": 1318, "end_pos": 1318, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081458", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G1318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1237120601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237120601" }, { "id": "rs1237120601", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1237120601" } ], "glycoeffect": [], "start_pos": 1319, "end_pos": 1319, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081455", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1319", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1320, "end_pos": 1320, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32081451", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D1320", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1779425833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779425833" }, { "id": "rs1779425833", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779425833" } ], "glycoeffect": [], "start_pos": 1321, "end_pos": 1321, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081449", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1321", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1197983727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197983727" }, { "id": "rs1197983727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197983727" } ], "glycoeffect": [], "start_pos": 1322, "end_pos": 1322, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081444", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1258771989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1258771989" }, { "id": "rs1258771989", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1258771989" } ], "glycoeffect": [], "start_pos": 1322, "end_pos": 1322, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081445", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280340355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280340355" }, { "id": "rs1280340355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1280340355#frequency_tab" }, { "id": "rs1280340355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280340355" }, { "id": "rs1280340355", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1280340355" } ], "glycoeffect": [], "start_pos": 1322, "end_pos": 1322, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081446", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1322", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs568613138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568613138" }, { "id": "rs568613138", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs568613138" }, { "id": "rs568613138", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568613138" }, { "id": "rs568613138", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs568613138#frequency_tab" }, { "id": "rs568613138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs568613138" } ], "glycoeffect": [], "start_pos": 1323, "end_pos": 1323, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081443", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R1323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766503904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766503904" }, { "id": "rs766503904", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766503904" }, { "id": "rs766503904", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766503904#frequency_tab" }, { "id": "rs766503904", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766503904" } ], "glycoeffect": [], "start_pos": 1323, "end_pos": 1323, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081442", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs568613138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568613138" }, { "id": "rs568613138", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs568613138" }, { "id": "rs568613138", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568613138" }, { "id": "rs568613138", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs568613138#frequency_tab" }, { "id": "rs568613138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs568613138" } ], "glycoeffect": [], "start_pos": 1323, "end_pos": 1323, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081443", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R1323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs117635810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs117635810" } ], "glycoeffect": [], "start_pos": 1324, "end_pos": 1324, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081438", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs55800491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs55800491" }, { "id": "rs55800491", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs55800491" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1325, "end_pos": 1325, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081437", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1325", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774469183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774469183" }, { "id": "rs774469183", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774469183" }, { "id": "rs774469183", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774469183" } ], "glycoeffect": [], "start_pos": 1326, "end_pos": 1326, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081434", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1326", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764099103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764099103" }, { "id": "rs764099103", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764099103" }, { "id": "rs764099103", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764099103#frequency_tab" }, { "id": "rs764099103", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764099103" } ], "glycoeffect": [], "start_pos": 1327, "end_pos": 1327, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081429", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1327", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1443865278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443865278" } ], "glycoeffect": [], "start_pos": 1328, "end_pos": 1328, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081426", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1328", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1377043678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377043678" }, { "id": "rs1377043678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377043678" } ], "glycoeffect": [], "start_pos": 1329, "end_pos": 1329, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081425", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1329", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1193091663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193091663" }, { "id": "rs1193091663", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1193091663#frequency_tab" } ], "glycoeffect": [], "start_pos": 1329, "end_pos": 1329, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081424", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1329", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747265735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747265735" }, { "id": "rs747265735", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747265735" }, { "id": "rs747265735", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747265735" } ], "glycoeffect": [], "start_pos": 132, "end_pos": 132, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097805", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1363532755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363532755" }, { "id": "rs1363532755", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1363532755" } ], "glycoeffect": [], "start_pos": 132, "end_pos": 132, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097804", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1406024505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406024505" }, { "id": "rs1406024505", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1406024505#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1330, "end_pos": 1330, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081422", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs587777684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777684" }, { "id": "rs587777684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs587777684" }, { "id": "23620400", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23620400" } ], "glycoeffect": [], "start_pos": 1331, "end_pos": 1331, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081419", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1331", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs775418163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775418163" }, { "id": "rs775418163", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775418163" }, { "id": "rs775418163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775418163" }, { "id": "rs775418163", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775418163" } ], "glycoeffect": [], "start_pos": 1333, "end_pos": 1333, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081413", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1333", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs534979105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534979105" }, { "id": "rs534979105", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534979105" }, { "id": "rs534979105", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534979105" }, { "id": "rs534979105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534979105" } ], "glycoeffect": [], "start_pos": 1333, "end_pos": 1333, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081412", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1413459862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413459862" }, { "id": "rs1413459862", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413459862#frequency_tab" }, { "id": "rs1413459862", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413459862" } ], "glycoeffect": [], "start_pos": 1334, "end_pos": 1334, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081410", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1334", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1413459862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413459862" }, { "id": "rs1413459862", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413459862#frequency_tab" }, { "id": "rs1413459862", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413459862" } ], "glycoeffect": [], "start_pos": 1334, "end_pos": 1334, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081410", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1334", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376857127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376857127" }, { "id": "rs376857127", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376857127#frequency_tab" }, { "id": "rs376857127", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376857127" } ], "glycoeffect": [], "start_pos": 1335, "end_pos": 1335, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081405", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1335", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs570879376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570879376" }, { "id": "rs570879376", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570879376" }, { "id": "rs570879376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs570879376" } ], "glycoeffect": [], "start_pos": 1336, "end_pos": 1336, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081404", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "Q1336", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745543647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745543647" }, { "id": "rs745543647", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745543647" }, { "id": "rs745543647", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745543647#frequency_tab" }, { "id": "rs745543647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745543647" } ], "glycoeffect": [], "start_pos": 1337, "end_pos": 1337, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081401", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1337", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61735731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61735731" }, { "id": "rs61735731", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61735731" }, { "id": "rs61735731", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61735731" }, { "id": "rs61735731", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61735731#frequency_tab" }, { "id": "rs61735731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61735731" } ], "glycoeffect": [], "start_pos": 1337, "end_pos": 1337, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081400", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R1337", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs61735731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61735731" }, { "id": "rs61735731", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61735731" }, { "id": "rs61735731", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61735731" }, { "id": "rs61735731", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61735731#frequency_tab" }, { "id": "rs61735731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61735731" } ], "glycoeffect": [], "start_pos": 1337, "end_pos": 1337, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081400", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R1337", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61735731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61735731" }, { "id": "rs61735731", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61735731" }, { "id": "rs61735731", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61735731" }, { "id": "rs61735731", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61735731#frequency_tab" }, { "id": "rs61735731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61735731" } ], "glycoeffect": [], "start_pos": 1337, "end_pos": 1337, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081400", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R1337", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774172352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774172352" }, { "id": "rs774172352", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774172352#frequency_tab" }, { "id": "rs774172352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774172352" } ], "glycoeffect": [], "start_pos": 1338, "end_pos": 1338, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081397", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746482679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746482679" }, { "id": "rs746482679", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746482679" }, { "id": "rs746482679", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746482679#frequency_tab" }, { "id": "rs746482679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746482679" } ], "glycoeffect": [], "start_pos": 1339, "end_pos": 1339, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081394", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1339", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1320915966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320915966" }, { "id": "rs1320915966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320915966" } ], "glycoeffect": [], "start_pos": 1340, "end_pos": 1340, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081392", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs924349760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs924349760" }, { "id": "rs924349760", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs924349760#frequency_tab" }, { "id": "rs924349760", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs924349760" } ], "glycoeffect": [], "start_pos": 1341, "end_pos": 1341, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081389", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1341", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779416950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779416950" }, { "id": "rs1779416950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779416950#frequency_tab" }, { "id": "rs1779416950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779416950" } ], "glycoeffect": [], "start_pos": 1341, "end_pos": 1341, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081388", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1341", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779416529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779416529" }, { "id": "rs1779416529", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779416529" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1342, "end_pos": 1342, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081386", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483668406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483668406" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1342, "end_pos": 1342, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081385", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1295822418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295822418" }, { "id": "rs1295822418", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295822418" } ], "glycoeffect": [], "start_pos": 1345, "end_pos": 1345, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081377", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748589387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748589387" }, { "id": "rs748589387", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748589387" }, { "id": "rs748589387", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748589387" } ], "glycoeffect": [], "start_pos": 1345, "end_pos": 1345, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081376", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127254038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127254038" }, { "id": "rs2127254038", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127254038" } ], "glycoeffect": [], "start_pos": 1346, "end_pos": 1346, "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081373", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1346", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1349706546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349706546" }, { "id": "rs1349706546", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349706546" } ], "glycoeffect": [], "start_pos": 1348, "end_pos": 1348, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081368", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770478856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770478856" }, { "id": "rs770478856", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770478856" }, { "id": "rs770478856", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770478856" } ], "glycoeffect": [], "start_pos": 1349, "end_pos": 1349, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079362", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776399008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776399008" }, { "id": "rs776399008", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776399008" }, { "id": "rs776399008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776399008" } ], "glycoeffect": [], "start_pos": 1349, "end_pos": 1349, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079363", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2078174121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2078174121" }, { "id": "rs2078174121", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2078174121#frequency_tab" } ], "glycoeffect": [], "start_pos": 1350, "end_pos": 1350, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079359", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1350", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779308123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779308123" }, { "id": "rs1779308123", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779308123#frequency_tab" } ], "glycoeffect": [], "start_pos": 1351, "end_pos": 1351, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079356", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1351", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746592378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746592378" }, { "id": "rs746592378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746592378" }, { "id": "rs746592378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746592378#frequency_tab" }, { "id": "rs746592378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746592378" } ], "glycoeffect": [], "start_pos": 1354, "end_pos": 1354, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079347", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs549679621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549679621" }, { "id": "rs549679621", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs549679621" }, { "id": "rs549679621", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549679621" }, { "id": "rs549679621", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs549679621#frequency_tab" }, { "id": "rs549679621", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs549679621" }, { "id": "rs549679621", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs549679621" } ], "glycoeffect": [], "start_pos": 1355, "end_pos": 1355, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079345", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1355", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779306868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779306868" }, { "id": "rs1779306868", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779306868" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1356, "end_pos": 1356, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079341", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779306642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779306642" }, { "id": "rs1779306642", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779306642#frequency_tab" } ], "glycoeffect": [], "start_pos": 1357, "end_pos": 1357, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079339", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771514610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771514610" }, { "id": "rs771514610", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771514610" }, { "id": "rs771514610", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771514610" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1358, "end_pos": 1358, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079335", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1358", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs987430972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs987430972" }, { "id": "rs987430972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs987430972#frequency_tab" }, { "id": "rs987430972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs987430972" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1358, "end_pos": 1358, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079334", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1358", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748677323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748677323" }, { "id": "rs748677323", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748677323" }, { "id": "rs748677323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748677323" } ], "glycoeffect": [], "start_pos": 1359, "end_pos": 1359, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079333", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779248696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779248696" }, { "id": "rs779248696", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779248696" }, { "id": "rs779248696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779248696" } ], "glycoeffect": [], "start_pos": 1362, "end_pos": 1362, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079323", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1362", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750603754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750603754" }, { "id": "rs750603754", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750603754" }, { "id": "rs750603754", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750603754#frequency_tab" }, { "id": "rs750603754", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750603754" } ], "glycoeffect": [], "start_pos": 1365, "end_pos": 1365, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079314", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1365", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1466044693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466044693" }, { "id": "rs1466044693", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466044693" } ], "glycoeffect": [], "start_pos": 1366, "end_pos": 1366, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079312", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752709537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752709537" }, { "id": "rs752709537", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752709537" }, { "id": "rs752709537", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752709537#frequency_tab" }, { "id": "rs752709537", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752709537" } ], "glycoeffect": [], "start_pos": 1367, "end_pos": 1367, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079308", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752709537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752709537" }, { "id": "rs752709537", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752709537" }, { "id": "rs752709537", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752709537#frequency_tab" }, { "id": "rs752709537", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752709537" } ], "glycoeffect": [], "start_pos": 1367, "end_pos": 1367, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079308", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759438362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759438362" }, { "id": "rs759438362", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759438362" }, { "id": "rs759438362", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759438362" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1369, "end_pos": 1369, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079303", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1369", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs913492853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs913492853" }, { "id": "rs913492853", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs913492853" }, { "id": "rs913492853", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs913492853#frequency_tab" }, { "id": "rs913492853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs913492853" }, { "id": "rs913492853", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs913492853" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1369, "end_pos": 1369, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079302", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1369", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1445017304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445017304" }, { "id": "rs1445017304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445017304" } ], "glycoeffect": [], "start_pos": 136, "end_pos": 136, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097447", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483767587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483767587" } ], "glycoeffect": [], "start_pos": 136, "end_pos": 136, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097446", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760334908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760334908" }, { "id": "rs760334908", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760334908" }, { "id": "rs760334908", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760334908#frequency_tab" }, { "id": "rs760334908", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760334908" } ], "glycoeffect": [], "start_pos": 1371, "end_pos": 1371, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079297", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760334908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760334908" }, { "id": "rs760334908", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760334908" }, { "id": "rs760334908", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760334908#frequency_tab" }, { "id": "rs760334908", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760334908" }, { "id": "rs760334908", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760334908" } ], "glycoeffect": [], "start_pos": 1371, "end_pos": 1371, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079297", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1371", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs771602314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771602314" }, { "id": "rs771602314", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771602314" }, { "id": "rs771602314", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771602314#frequency_tab" }, { "id": "rs771602314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771602314" } ], "glycoeffect": [], "start_pos": 1373, "end_pos": 1373, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079290", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1373", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs527420736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527420736" }, { "id": "rs527420736", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527420736" }, { "id": "rs527420736", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527420736" }, { "id": "rs527420736", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs527420736#frequency_tab" }, { "id": "rs527420736", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs527420736" } ], "glycoeffect": [], "start_pos": 1373, "end_pos": 1373, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079291", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P1373", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1034520502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1034520502" }, { "id": "rs1034520502", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1034520502#frequency_tab" }, { "id": "rs1034520502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1034520502" } ], "glycoeffect": [], "start_pos": 1374, "end_pos": 1374, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079287", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1374", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127293541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127293541" }, { "id": "rs2127293541", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127293541" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 137, "end_pos": 137, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097443", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779298897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779298897" }, { "id": "rs1779298897", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779298897#frequency_tab" }, { "id": "rs1779298897", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779298897" } ], "glycoeffect": [], "start_pos": 1382, "end_pos": 1382, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079264", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1382", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779298405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779298405" }, { "id": "rs1779298405", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779298405" }, { "id": "rs1779298405", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779298405" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1384, "end_pos": 1384, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079257", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1384", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs780283718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780283718" }, { "id": "rs780283718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780283718" }, { "id": "rs780283718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780283718#frequency_tab" }, { "id": "rs780283718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780283718" } ], "glycoeffect": [], "start_pos": 1385, "end_pos": 1385, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079255", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1385", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779297660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779297660" }, { "id": "rs1779297660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779297660#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1387, "end_pos": 1387, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079249", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1387", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1170412765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170412765" }, { "id": "rs1170412765", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170412765" } ], "glycoeffect": [], "start_pos": 138, "end_pos": 138, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097441", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781521699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781521699" }, { "id": "rs781521699", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781521699" }, { "id": "rs781521699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781521699" } ], "glycoeffect": [], "start_pos": 1390, "end_pos": 1390, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079240", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1390", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781521699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781521699" }, { "id": "rs781521699", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781521699" }, { "id": "rs781521699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781521699" } ], "glycoeffect": [], "start_pos": 1390, "end_pos": 1390, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079240", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1390", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2483654739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483654739" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1393, "end_pos": 1393, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079231", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1393", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs541600049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541600049" }, { "id": "rs541600049", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs541600049" }, { "id": "rs541600049", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs541600049" }, { "id": "rs541600049", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs541600049#frequency_tab" }, { "id": "rs541600049", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs541600049" } ], "glycoeffect": [], "start_pos": 1394, "end_pos": 1394, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079228", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V1394", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1281889688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281889688" }, { "id": "rs1281889688", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1281889688" }, { "id": "rs1281889688", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1281889688" } ], "glycoeffect": [], "start_pos": 1395, "end_pos": 1395, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079224", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1395", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1421660297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421660297" }, { "id": "rs1421660297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421660297" } ], "glycoeffect": [], "start_pos": 1395, "end_pos": 1395, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079225", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1421660297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421660297" }, { "id": "rs1421660297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421660297" } ], "glycoeffect": [], "start_pos": 1395, "end_pos": 1395, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079225", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1239538067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239538067" }, { "id": "rs1239538067", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1239538067#frequency_tab" }, { "id": "rs1239538067", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239538067" }, { "id": "rs1239538067", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1239538067" } ], "glycoeffect": [], "start_pos": 1396, "end_pos": 1396, "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079221", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1396", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779295390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779295390" }, { "id": "rs1779295390", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779295390#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1398, "end_pos": 1398, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079216", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1398", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775204788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775204788" }, { "id": "rs775204788", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775204788" }, { "id": "rs775204788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775204788" } ], "glycoeffect": [], "start_pos": 139, "end_pos": 139, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097438", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V139", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs898029071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs898029071" }, { "id": "rs898029071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs898029071" } ], "glycoeffect": [], "start_pos": 13, "end_pos": 13, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098162", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V13", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs898029071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs898029071" }, { "id": "rs898029071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs898029071" } ], "glycoeffect": [], "start_pos": 13, "end_pos": 13, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098162", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V13", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1456879875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1456879875" }, { "id": "rs1456879875", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1456879875#frequency_tab" }, { "id": "rs1456879875", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1456879875" } ], "glycoeffect": [], "start_pos": 1400, "end_pos": 1400, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079210", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1400", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1372051078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372051078" }, { "id": "rs1372051078", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372051078" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1401, "end_pos": 1401, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079206", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1401", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1194532133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194532133" }, { "id": "rs1194532133", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194532133" } ], "glycoeffect": [], "start_pos": 1402, "end_pos": 1402, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079202", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1402", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766110850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766110850" }, { "id": "rs766110850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766110850" }, { "id": "rs766110850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766110850#frequency_tab" }, { "id": "rs766110850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766110850" } ], "glycoeffect": [], "start_pos": 1404, "end_pos": 1404, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079198", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766110850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766110850" }, { "id": "rs766110850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766110850" }, { "id": "rs766110850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766110850#frequency_tab" }, { "id": "rs766110850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766110850" }, { "id": "rs766110850", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766110850" } ], "glycoeffect": [], "start_pos": 1404, "end_pos": 1404, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079198", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1404", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779292513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779292513" }, { "id": "rs1779292513", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779292513#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1406, "end_pos": 1406, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079191", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1406", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760422687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760422687" }, { "id": "rs760422687", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760422687" }, { "id": "rs760422687", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760422687" } ], "glycoeffect": [], "start_pos": 1407, "end_pos": 1407, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079189", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1407", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483654259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483654259" } ], "glycoeffect": [], "start_pos": 1407, "end_pos": 1407, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079188", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1407", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2127248947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127248947" }, { "id": "rs2127248947", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127248947" } ], "glycoeffect": [], "start_pos": 1408, "end_pos": 1408, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079186", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750116856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750116856" }, { "id": "rs750116856", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750116856" }, { "id": "rs750116856", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750116856" } ], "glycoeffect": [], "start_pos": 1409, "end_pos": 1409, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079183", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1409", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758876550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758876550" }, { "id": "rs758876550", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758876550" }, { "id": "rs758876550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758876550#frequency_tab" }, { "id": "rs758876550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758876550" } ], "glycoeffect": [], "start_pos": 140, "end_pos": 140, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097434", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758876550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758876550" }, { "id": "rs758876550", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758876550" }, { "id": "rs758876550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758876550#frequency_tab" }, { "id": "rs758876550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758876550" } ], "glycoeffect": [], "start_pos": 140, "end_pos": 140, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097434", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758876550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758876550" }, { "id": "rs758876550", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758876550" }, { "id": "rs758876550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758876550#frequency_tab" }, { "id": "rs758876550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758876550" } ], "glycoeffect": [], "start_pos": 140, "end_pos": 140, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097434", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1420372911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420372911" }, { "id": "rs1420372911", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1420372911#frequency_tab" }, { "id": "rs1420372911", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420372911" } ], "glycoeffect": [], "start_pos": 140, "end_pos": 140, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097435", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R140", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779291881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779291881" }, { "id": "rs1779291881", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779291881" }, { "id": "rs1779291881", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779291881" } ], "glycoeffect": [], "start_pos": 1410, "end_pos": 1410, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079180", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1410", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1321697677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321697677" }, { "id": "rs1321697677", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1321697677#frequency_tab" } ], "glycoeffect": [], "start_pos": 1411, "end_pos": 1411, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079177", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773727721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773727721" }, { "id": "rs773727721", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773727721" }, { "id": "rs773727721", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773727721#frequency_tab" }, { "id": "rs773727721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773727721" } ], "glycoeffect": [], "start_pos": 1412, "end_pos": 1412, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079173", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1412", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761371066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761371066" }, { "id": "rs761371066", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761371066" }, { "id": "rs761371066", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761371066#frequency_tab" }, { "id": "rs761371066", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761371066" }, { "id": "rs761371066", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs761371066" } ], "glycoeffect": [], "start_pos": 1412, "end_pos": 1412, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079174", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1412", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779290580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779290580" }, { "id": "rs1779290580", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779290580#frequency_tab" } ], "glycoeffect": [], "start_pos": 1413, "end_pos": 1413, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079171", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483654069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483654069" } ], "glycoeffect": [], "start_pos": 1413, "end_pos": 1413, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079170", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779290580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779290580" } ], "glycoeffect": [], "start_pos": 1413, "end_pos": 1413, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079171", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs565552445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565552445" }, { "id": "rs565552445", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565552445" }, { "id": "rs565552445", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565552445" }, { "id": "rs565552445", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565552445#frequency_tab" }, { "id": "rs565552445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565552445" } ], "glycoeffect": [], "start_pos": 1414, "end_pos": 1414, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079168", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1414", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs9267799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9267799" }, { "id": "rs9267799", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9267799" }, { "id": "rs9267799", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9267799" }, { "id": "rs9267799", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9267799#frequency_tab" }, { "id": "rs9267799", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9267799" } ], "glycoeffect": [], "start_pos": 1414, "end_pos": 1414, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079167", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0449372", "site_lbl": "R1414", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs9267799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9267799" }, { "id": "rs9267799", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9267799" }, { "id": "rs9267799", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9267799" }, { "id": "rs9267799", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9267799#frequency_tab" }, { "id": "rs9267799", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9267799" } ], "glycoeffect": [], "start_pos": 1414, "end_pos": 1414, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079167", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0449372", "site_lbl": "R1414", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs565552445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565552445" }, { "id": "rs565552445", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565552445" }, { "id": "rs565552445", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565552445" }, { "id": "rs565552445", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565552445#frequency_tab" }, { "id": "rs565552445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565552445" }, { "id": "rs565552445", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565552445" } ], "glycoeffect": [], "start_pos": 1414, "end_pos": 1414, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079168", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1414", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs900415940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs900415940" }, { "id": "rs900415940", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs900415940#frequency_tab" }, { "id": "rs900415940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs900415940" } ], "glycoeffect": [], "start_pos": 1415, "end_pos": 1415, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079165", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs900415940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs900415940" }, { "id": "rs900415940", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs900415940#frequency_tab" }, { "id": "rs900415940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs900415940" } ], "glycoeffect": [], "start_pos": 1415, "end_pos": 1415, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079165", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770309992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770309992" }, { "id": "rs770309992", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770309992" }, { "id": "rs770309992", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770309992#frequency_tab" }, { "id": "rs770309992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770309992" }, { "id": "rs770309992", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770309992" } ], "glycoeffect": [], "start_pos": 1415, "end_pos": 1415, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079164", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1415", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs943572831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs943572831" }, { "id": "rs943572831", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs943572831#frequency_tab" }, { "id": "rs943572831", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs943572831" }, { "id": "rs943572831", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs943572831" } ], "glycoeffect": [], "start_pos": 1417, "end_pos": 1417, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079159", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1417", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs777054871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777054871" }, { "id": "rs777054871", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777054871" }, { "id": "rs777054871", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777054871#frequency_tab" }, { "id": "rs777054871", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777054871" }, { "id": "rs777054871", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777054871" } ], "glycoeffect": [], "start_pos": 1417, "end_pos": 1417, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079158", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1417", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1043137957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1043137957" }, { "id": "rs1043137957", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1043137957#frequency_tab" }, { "id": "rs1043137957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1043137957" } ], "glycoeffect": [], "start_pos": 1418, "end_pos": 1418, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079155", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1418", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771278790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771278790" }, { "id": "rs771278790", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771278790" }, { "id": "rs771278790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771278790" } ], "glycoeffect": [], "start_pos": 1419, "end_pos": 1419, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079152", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780477817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780477817" }, { "id": "rs1780477817", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780477817#frequency_tab" }, { "id": "rs1780477817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780477817" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 141, "end_pos": 141, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097432", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T141", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1435420982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1435420982" }, { "id": "rs1435420982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1435420982" } ], "glycoeffect": [], "start_pos": 1420, "end_pos": 1420, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079150", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1420", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779287558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779287558" }, { "id": "rs1779287558", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779287558" }, { "id": "rs1779287558", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779287558" } ], "glycoeffect": [], "start_pos": 1420, "end_pos": 1420, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079149", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1420", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs6920695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6920695" }, { "id": "rs6920695", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6920695" } ], "glycoeffect": [], "start_pos": 1421, "end_pos": 1421, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079147", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1421", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs6920695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6920695" }, { "id": "rs6920695", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6920695" } ], "glycoeffect": [], "start_pos": 1421, "end_pos": 1421, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079147", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1421", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779287112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779287112" }, { "id": "rs1779287112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779287112#frequency_tab" } ], "glycoeffect": [], "start_pos": 1421, "end_pos": 1421, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079146", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1421", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184281001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184281001" }, { "id": "rs1184281001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184281001#frequency_tab" } ], "glycoeffect": [], "start_pos": 1422, "end_pos": 1422, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079142", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1422", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747190024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747190024" }, { "id": "rs747190024", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747190024" }, { "id": "rs747190024", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747190024#frequency_tab" } ], "glycoeffect": [], "start_pos": 1424, "end_pos": 1424, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079138", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779285537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779285537" }, { "id": "rs1779285537", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779285537" }, { "id": "rs1779285537", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779285537#frequency_tab" } ], "glycoeffect": [], "start_pos": 1425, "end_pos": 1425, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079134", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1425", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779285328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779285328" }, { "id": "rs1779285328", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779285328" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1426, "end_pos": 1426, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079132", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749217346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749217346" }, { "id": "rs749217346", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749217346" }, { "id": "rs749217346", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749217346#frequency_tab" }, { "id": "rs749217346", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749217346" } ], "glycoeffect": [], "start_pos": 1427, "end_pos": 1427, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079129", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1427", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749217346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749217346" }, { "id": "rs749217346", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749217346" }, { "id": "rs749217346", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749217346#frequency_tab" }, { "id": "rs749217346", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749217346" } ], "glycoeffect": [], "start_pos": 1427, "end_pos": 1427, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079129", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1427", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355379551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355379551" }, { "id": "rs1355379551", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1355379551" } ], "glycoeffect": [], "start_pos": 1428, "end_pos": 1428, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079126", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1428", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760597086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760597086" }, { "id": "rs760597086", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs760597086" } ], "glycoeffect": [], "start_pos": 1429, "end_pos": 1429, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079123", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1429", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1217559384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1217559384" }, { "id": "rs1217559384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1217559384" } ], "glycoeffect": [], "start_pos": 1429, "end_pos": 1429, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079122", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1429", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 142, "end_pos": 142, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097428", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L142", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs758908709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758908709" }, { "id": "rs758908709", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758908709" }, { "id": "rs758908709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758908709" } ], "glycoeffect": [], "start_pos": 142, "end_pos": 142, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097429", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1235420607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235420607" }, { "id": "rs1235420607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235420607" }, { "id": "rs1235420607", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1235420607" } ], "glycoeffect": [], "start_pos": 1433, "end_pos": 1433, "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079110", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1433", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs755953436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755953436" }, { "id": "rs755953436", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755953436" }, { "id": "rs755953436", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755953436#frequency_tab" }, { "id": "rs755953436", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755953436" }, { "id": "rs755953436", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755953436" } ], "glycoeffect": [], "start_pos": 1433, "end_pos": 1433, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079111", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1433", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1195102797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195102797" }, { "id": "rs1195102797", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195102797" } ], "glycoeffect": [], "start_pos": 1434, "end_pos": 1434, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079108", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1434", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1300419577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300419577" }, { "id": "rs1300419577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300419577" } ], "glycoeffect": [], "start_pos": 1435, "end_pos": 1435, "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079105", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1435", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750204851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750204851" }, { "id": "rs750204851", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750204851" }, { "id": "rs750204851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750204851" } ], "glycoeffect": [], "start_pos": 1436, "end_pos": 1436, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079101", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1436", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1315071972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315071972" }, { "id": "rs1315071972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1315071972#frequency_tab" } ], "glycoeffect": [], "start_pos": 1437, "end_pos": 1437, "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079098", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1362162886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1362162886" }, { "id": "rs1362162886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1362162886" } ], "glycoeffect": [], "start_pos": 1437, "end_pos": 1437, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079099", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779281381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779281381" }, { "id": "rs1779281381", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779281381#frequency_tab" } ], "glycoeffect": [], "start_pos": 1438, "end_pos": 1438, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079094", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1438", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767222442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767222442" }, { "id": "rs767222442", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767222442" }, { "id": "rs767222442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767222442" } ], "glycoeffect": [], "start_pos": 1439, "end_pos": 1439, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079093", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1439", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127293500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127293500" }, { "id": "rs2127293500", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127293500" } ], "glycoeffect": [], "start_pos": 143, "end_pos": 143, "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097426", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1178974021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178974021" }, { "id": "rs1178974021", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178974021" } ], "glycoeffect": [], "start_pos": 143, "end_pos": 143, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097425", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C143", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs756905708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756905708" }, { "id": "rs756905708", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756905708" }, { "id": "rs756905708", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756905708#frequency_tab" }, { "id": "rs756905708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756905708" } ], "glycoeffect": [], "start_pos": 1440, "end_pos": 1440, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079090", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1440", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762480960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762480960" }, { "id": "rs762480960", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs762480960" }, { "id": "rs762480960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762480960" }, { "id": "rs762480960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762480960#frequency_tab" }, { "id": "rs762480960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762480960" } ], "glycoeffect": [], "start_pos": 1442, "end_pos": 1442, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079084", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0", "site_lbl": "G1442", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765829589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765829589" }, { "id": "rs765829589", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765829589" }, { "id": "rs765829589", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765829589#frequency_tab" }, { "id": "rs765829589", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765829589" } ], "glycoeffect": [], "start_pos": 1445, "end_pos": 1445, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079075", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1445", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760049473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760049473" }, { "id": "rs760049473", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760049473" }, { "id": "rs760049473", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760049473#frequency_tab" }, { "id": "rs760049473", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760049473" }, { "id": "rs760049473", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760049473" } ], "glycoeffect": [], "start_pos": 1446, "end_pos": 1446, "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079071", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1446", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779279102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779279102" }, { "id": "rs1779279102", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779279102" }, { "id": "rs1779279102", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779279102" } ], "glycoeffect": [], "start_pos": 1446, "end_pos": 1446, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079072", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1446", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779279102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779279102" }, { "id": "rs1779279102", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779279102" } ], "glycoeffect": [], "start_pos": 1446, "end_pos": 1446, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079072", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1446", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562847147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562847147" }, { "id": "rs1562847147", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562847147" } ], "glycoeffect": [], "start_pos": 1447, "end_pos": 1447, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079069", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372769933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372769933" }, { "id": "rs372769933", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372769933" }, { "id": "rs372769933", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372769933#frequency_tab" }, { "id": "rs372769933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372769933" } ], "glycoeffect": [], "start_pos": 1447, "end_pos": 1447, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079068", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs936775313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs936775313" }, { "id": "rs936775313", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs936775313#frequency_tab" }, { "id": "rs936775313", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs936775313" } ], "glycoeffect": [], "start_pos": 1448, "end_pos": 1448, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079066", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1448", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs760174312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760174312" }, { "id": "rs760174312", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760174312" }, { "id": "rs760174312", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760174312#frequency_tab" }, { "id": "rs760174312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760174312" }, { "id": "rs760174312", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760174312" } ], "glycoeffect": [], "start_pos": 1448, "end_pos": 1448, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079065", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1448", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs760174312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760174312" }, { "id": "rs760174312", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760174312" }, { "id": "rs760174312", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760174312#frequency_tab" }, { "id": "rs760174312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760174312" } ], "glycoeffect": [], "start_pos": 1448, "end_pos": 1448, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079065", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs936775313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs936775313" }, { "id": "rs936775313", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs936775313#frequency_tab" } ], "glycoeffect": [], "start_pos": 1448, "end_pos": 1448, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079066", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773445960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773445960" }, { "id": "rs773445960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773445960" }, { "id": "rs773445960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773445960#frequency_tab" }, { "id": "rs773445960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773445960" } ], "glycoeffect": [], "start_pos": 1449, "end_pos": 1449, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079063", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1449", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773445960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773445960" }, { "id": "rs773445960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773445960" }, { "id": "rs773445960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773445960#frequency_tab" }, { "id": "rs773445960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773445960" }, { "id": "rs773445960", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773445960" } ], "glycoeffect": [], "start_pos": 1449, "end_pos": 1449, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079063", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1449", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1237423218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237423218" }, { "id": "rs1237423218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1237423218" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 144, "end_pos": 144, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097422", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1237423218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237423218" }, { "id": "rs1237423218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1237423218" } ], "glycoeffect": [], "start_pos": 144, "end_pos": 144, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097422", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771493330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771493330" }, { "id": "rs771493330", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771493330" }, { "id": "rs771493330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771493330#frequency_tab" }, { "id": "rs771493330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771493330" }, { "id": "rs771493330", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771493330" } ], "glycoeffect": [], "start_pos": 1451, "end_pos": 1451, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079056", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1451", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs771493330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771493330" }, { "id": "rs771493330", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771493330" }, { "id": "rs771493330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771493330#frequency_tab" }, { "id": "rs771493330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771493330" } ], "glycoeffect": [], "start_pos": 1451, "end_pos": 1451, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079056", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1451", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542750932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542750932" }, { "id": "rs542750932", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542750932" }, { "id": "rs542750932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542750932#frequency_tab" }, { "id": "rs542750932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542750932" } ], "glycoeffect": [], "start_pos": 1452, "end_pos": 1452, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079054", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1452", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542750932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542750932" }, { "id": "rs542750932", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542750932" }, { "id": "rs542750932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542750932#frequency_tab" }, { "id": "rs542750932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542750932" }, { "id": "rs542750932", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542750932" } ], "glycoeffect": [], "start_pos": 1452, "end_pos": 1452, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079054", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1452", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs267600973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267600973" }, { "id": "rs267600973", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267600973" }, { "id": "rs267600973", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs267600973" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1453, "end_pos": 1453, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079050", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1453", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs374243353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374243353" }, { "id": "rs374243353", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374243353" }, { "id": "rs374243353", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374243353#frequency_tab" }, { "id": "rs374243353", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374243353" }, { "id": "rs374243353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374243353" } ], "glycoeffect": [], "start_pos": 1454, "end_pos": 1454, "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32079048", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "0.000020", "site_lbl": "A1454", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs572455281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572455281" }, { "id": "rs572455281", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572455281" }, { "id": "rs572455281", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572455281" }, { "id": "rs572455281", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572455281#frequency_tab" }, { "id": "rs572455281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572455281" } ], "glycoeffect": [], "start_pos": 1455, "end_pos": 1455, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079045", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs572455281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572455281" }, { "id": "rs572455281", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572455281" }, { "id": "rs572455281", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572455281" }, { "id": "rs572455281", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572455281#frequency_tab" }, { "id": "rs572455281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572455281" }, { "id": "rs572455281", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572455281" } ], "glycoeffect": [], "start_pos": 1455, "end_pos": 1455, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079045", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1455", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs201153451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201153451" }, { "id": "rs201153451", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201153451" }, { "id": "rs201153451", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201153451#frequency_tab" }, { "id": "rs201153451", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201153451" }, { "id": "rs201153451", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201153451" } ], "glycoeffect": [], "start_pos": 1457, "end_pos": 1457, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079039", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1457", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs367922903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367922903" }, { "id": "rs367922903", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367922903" }, { "id": "rs367922903", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367922903#frequency_tab" }, { "id": "rs367922903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367922903" } ], "glycoeffect": [], "start_pos": 1461, "end_pos": 1461, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073947", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1033940667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1033940667" }, { "id": "rs1033940667", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1033940667#frequency_tab" }, { "id": "rs1033940667", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1033940667" } ], "glycoeffect": [], "start_pos": 1462, "end_pos": 1462, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073944", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1462", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1033940667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1033940667" }, { "id": "rs1033940667", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1033940667#frequency_tab" }, { "id": "rs1033940667", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1033940667" } ], "glycoeffect": [], "start_pos": 1462, "end_pos": 1462, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073944", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1462", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778931526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778931526" }, { "id": "rs1778931526", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778931526#frequency_tab" } ], "glycoeffect": [], "start_pos": 1463, "end_pos": 1463, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073941", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761069340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761069340" }, { "id": "rs761069340", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761069340" }, { "id": "rs761069340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761069340" } ], "glycoeffect": [], "start_pos": 1464, "end_pos": 1464, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073936", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1464", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1409770290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409770290" }, { "id": "rs1409770290", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1409770290" } ], "glycoeffect": [], "start_pos": 1464, "end_pos": 1464, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073938", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1464", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778930983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778930983" } ], "glycoeffect": [], "start_pos": 1464, "end_pos": 1464, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073938CTT", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1464", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1467218146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467218146" }, { "id": "rs1467218146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1467218146#frequency_tab" }, { "id": "rs1467218146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467218146" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1465, "end_pos": 1465, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073934", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1465", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1467218146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467218146" }, { "id": "rs1467218146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1467218146#frequency_tab" }, { "id": "rs1467218146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467218146" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1465, "end_pos": 1465, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073934", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1465", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772326782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772326782" }, { "id": "rs772326782", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772326782" }, { "id": "rs772326782", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772326782" }, { "id": "rs772326782", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772326782" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1465, "end_pos": 1465, "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073935", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1465", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1467218146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467218146" }, { "id": "rs1467218146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1467218146#frequency_tab" }, { "id": "rs1467218146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467218146" }, { "id": "rs772326782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772326782" }, { "id": "rs772326782", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772326782" }, { "id": "rs772326782", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772326782" } ], "glycoeffect": [], "start_pos": 1465, "end_pos": 1465, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073934", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1465", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1384747619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384747619" }, { "id": "rs1384747619", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384747619" } ], "glycoeffect": [], "start_pos": 1466, "end_pos": 1466, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073931", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1466", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213244609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213244609" }, { "id": "rs1213244609", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213244609#frequency_tab" } ], "glycoeffect": [], "start_pos": 1467, "end_pos": 1467, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073929", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1467", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777196064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777196064" }, { "id": "rs777196064", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777196064" }, { "id": "rs777196064", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777196064#frequency_tab" }, { "id": "rs777196064", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777196064" } ], "glycoeffect": [], "start_pos": 146, "end_pos": 146, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097416", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780476790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780476790" }, { "id": "rs1780476790", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780476790#frequency_tab" } ], "glycoeffect": [], "start_pos": 146, "end_pos": 146, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097417", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781063575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781063575" }, { "id": "rs781063575", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781063575" }, { "id": "rs781063575", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781063575#frequency_tab" }, { "id": "rs781063575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781063575" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1471, "end_pos": 1471, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073916", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745824476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745824476" }, { "id": "rs745824476", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745824476" }, { "id": "rs745824476", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745824476#frequency_tab" }, { "id": "rs745824476", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745824476" } ], "glycoeffect": [], "start_pos": 1471, "end_pos": 1471, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073917", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781063575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781063575" }, { "id": "rs781063575", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781063575" }, { "id": "rs781063575", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781063575#frequency_tab" }, { "id": "rs781063575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781063575" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1471, "end_pos": 1471, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073916", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374294912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374294912" }, { "id": "rs374294912", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374294912" }, { "id": "rs374294912", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374294912#frequency_tab" }, { "id": "rs374294912", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374294912" }, { "id": "rs374294912", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374294912" } ], "glycoeffect": [], "start_pos": 1472, "end_pos": 1472, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073913", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1472", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs374294912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374294912" }, { "id": "rs374294912", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374294912" }, { "id": "rs374294912", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374294912#frequency_tab" }, { "id": "rs374294912", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374294912" } ], "glycoeffect": [], "start_pos": 1472, "end_pos": 1472, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073913", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1472", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1358275258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1358275258" }, { "id": "rs1358275258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1358275258" } ], "glycoeffect": [], "start_pos": 1473, "end_pos": 1473, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073910", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1473", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151921412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151921412" }, { "id": "rs2151921412", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151921412" } ], "glycoeffect": [], "start_pos": 1475, "end_pos": 1475, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073905", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1475", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758078005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758078005" }, { "id": "rs758078005", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758078005" }, { "id": "rs758078005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758078005#frequency_tab" }, { "id": "rs758078005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758078005" } ], "glycoeffect": [], "start_pos": 1476, "end_pos": 1476, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073902", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1476", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs752343940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752343940" }, { "id": "rs752343940", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752343940" }, { "id": "rs752343940", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752343940#frequency_tab" }, { "id": "rs752343940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752343940" }, { "id": "rs752343940", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752343940" } ], "glycoeffect": [], "start_pos": 1476, "end_pos": 1476, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073901", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1476", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs752343940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752343940" }, { "id": "rs752343940", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752343940" }, { "id": "rs752343940", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752343940#frequency_tab" }, { "id": "rs752343940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752343940" } ], "glycoeffect": [], "start_pos": 1476, "end_pos": 1476, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073901", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1476", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs540029834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540029834" }, { "id": "rs540029834", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs540029834" }, { "id": "rs540029834", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540029834" }, { "id": "rs540029834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs540029834#frequency_tab" }, { "id": "rs540029834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs540029834" } ], "glycoeffect": [], "start_pos": 1478, "end_pos": 1478, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073896", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G1478", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1041163540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1041163540" }, { "id": "rs1041163540", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1041163540" } ], "glycoeffect": [], "start_pos": 147, "end_pos": 147, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097414", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G147", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1041163540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1041163540" }, { "id": "rs1041163540", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1041163540" }, { "id": "rs1041163540", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1041163540" } ], "glycoeffect": [], "start_pos": 147, "end_pos": 147, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097414", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G147", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs754436915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754436915" }, { "id": "rs754436915", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754436915" }, { "id": "rs754436915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754436915" } ], "glycoeffect": [], "start_pos": 1480, "end_pos": 1480, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073890", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1480", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1353187688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1353187688" }, { "id": "rs1353187688", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1353187688#frequency_tab" }, { "id": "rs1353187688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1353187688" }, { "id": "rs1353187688", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1353187688" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1481, "end_pos": 1481, "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073887", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1481", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1778924199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778924199" }, { "id": "rs1778924199", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778924199" } ], "glycoeffect": [], "start_pos": 1482, "end_pos": 1482, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073883", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1482", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61740336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61740336" }, { "id": "rs61740336", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61740336" }, { "id": "rs61740336", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61740336" }, { "id": "rs61740336", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61740336#frequency_tab" }, { "id": "rs61740336", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61740336" } ], "glycoeffect": [], "start_pos": 1482, "end_pos": 1482, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073884", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "V1482", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778923990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778923990" }, { "id": "rs1778923990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778923990" } ], "glycoeffect": [], "start_pos": 1484, "end_pos": 1484, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073877", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1484", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778923723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778923723" }, { "id": "rs1778923723", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778923723#frequency_tab" } ], "glycoeffect": [], "start_pos": 1485, "end_pos": 1485, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073875", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1485", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1431114387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431114387" }, { "id": "rs1431114387", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431114387" } ], "glycoeffect": [], "start_pos": 1487, "end_pos": 1487, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073869", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1487", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1431114387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431114387" }, { "id": "rs1431114387", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431114387" } ], "glycoeffect": [], "start_pos": 1487, "end_pos": 1487, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073869", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1487", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1388282380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388282380" }, { "id": "rs1388282380", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1388282380#frequency_tab" } ], "glycoeffect": [], "start_pos": 1490, "end_pos": 1490, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073859", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1490", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778921960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778921960" }, { "id": "rs1778921960", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778921960" } ], "glycoeffect": [], "start_pos": 1492, "end_pos": 1492, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073854", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1492", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1335061905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335061905" }, { "id": "rs1335061905", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1335061905#frequency_tab" }, { "id": "rs1335061905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335061905" } ], "glycoeffect": [], "start_pos": 1492, "end_pos": 1492, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073853", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1492", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1335061905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335061905" }, { "id": "rs1335061905", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1335061905#frequency_tab" }, { "id": "rs1335061905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335061905" } ], "glycoeffect": [], "start_pos": 1492, "end_pos": 1492, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073853", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1492", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778921180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778921180" }, { "id": "rs1778921180", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778921180" } ], "glycoeffect": [], "start_pos": 1494, "end_pos": 1494, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073848", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1494", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs6910390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6910390" }, { "id": "rs6910390", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6910390" }, { "id": "rs6910390", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6910390" }, { "id": "rs6910390", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs6910390#frequency_tab" }, { "id": "rs6910390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6910390" }, { "id": "rs6910390", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6910390" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1495, "end_pos": 1495, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073844", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1495", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs6910390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6910390" }, { "id": "rs6910390", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6910390" }, { "id": "rs6910390", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6910390" }, { "id": "rs6910390", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs6910390#frequency_tab" }, { "id": "rs6910390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6910390" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1495, "end_pos": 1495, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073844", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1495", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1380977388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380977388" }, { "id": "rs1380977388", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1380977388" }, { "id": "rs1380977388", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1380977388" } ], "glycoeffect": [], "start_pos": 1497, "end_pos": 1497, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073839", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1497", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs374750804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374750804" }, { "id": "rs374750804", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374750804" }, { "id": "rs374750804", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374750804#frequency_tab" }, { "id": "rs374750804", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374750804" }, { "id": "rs374750804", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374750804" } ], "glycoeffect": [], "start_pos": 1498, "end_pos": 1498, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073836", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1498", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1778919696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778919696" }, { "id": "rs1778919696", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778919696#frequency_tab" } ], "glycoeffect": [], "start_pos": 1499, "end_pos": 1499, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073832", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1499", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 14, "end_pos": 14, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098159", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L14", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs755462290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755462290" }, { "id": "rs755462290", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755462290" }, { "id": "rs755462290", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755462290#frequency_tab" }, { "id": "rs755462290", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755462290" } ], "glycoeffect": [], "start_pos": 14, "end_pos": 14, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098159", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L14", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs932313112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs932313112" }, { "id": "rs932313112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs932313112#frequency_tab" }, { "id": "rs932313112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs932313112" } ], "glycoeffect": [], "start_pos": 1500, "end_pos": 1500, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073828", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1438776942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1438776942" }, { "id": "rs1438776942", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1438776942" } ], "glycoeffect": [], "start_pos": 1501, "end_pos": 1501, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073827", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1501", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184896466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184896466" }, { "id": "rs1184896466", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1184896466" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1503, "end_pos": 1503, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073821", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1503", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768750593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768750593" }, { "id": "rs768750593", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768750593" }, { "id": "rs768750593", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768750593#frequency_tab" }, { "id": "rs768750593", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768750593" } ], "glycoeffect": [], "start_pos": 1504, "end_pos": 1504, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073818", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1504", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1473936921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473936921" }, { "id": "rs1473936921", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1473936921#frequency_tab" }, { "id": "rs1473936921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1473936921" } ], "glycoeffect": [], "start_pos": 1505, "end_pos": 1505, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073813", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371430427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371430427" }, { "id": "rs371430427", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371430427" }, { "id": "rs371430427", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371430427#frequency_tab" }, { "id": "rs371430427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371430427" } ], "glycoeffect": [], "start_pos": 1505, "end_pos": 1505, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073814", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778917880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778917880" }, { "id": "rs1778917880", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778917880" } ], "glycoeffect": [], "start_pos": 1505, "end_pos": 1505, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073815", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1218309816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218309816" }, { "id": "rs1218309816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218309816" } ], "glycoeffect": [], "start_pos": 1507, "end_pos": 1507, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073809", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1507", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778916994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778916994" }, { "id": "rs1778916994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778916994#frequency_tab" } ], "glycoeffect": [], "start_pos": 1507, "end_pos": 1507, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073808", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1507", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778916771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778916771" }, { "id": "rs1778916771", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778916771" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1508, "end_pos": 1508, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073805", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1508", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 150, "end_pos": 150, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097403", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D150", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1780476004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780476004" }, { "id": "rs1780476004", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780476004" } ], "glycoeffect": [], "start_pos": 150, "end_pos": 150, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097405", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483616049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483616049" } ], "glycoeffect": [], "start_pos": 1511, "end_pos": 1511, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073796", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770885723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770885723" }, { "id": "rs770885723", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770885723" }, { "id": "rs770885723", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770885723#frequency_tab" }, { "id": "rs770885723", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770885723" } ], "glycoeffect": [], "start_pos": 1512, "end_pos": 1512, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073794", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1512", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778916308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778916308" }, { "id": "rs1778916308", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778916308#frequency_tab" }, { "id": "rs1778916308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778916308" } ], "glycoeffect": [], "start_pos": 1512, "end_pos": 1512, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073793", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1512", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771301700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771301700" }, { "id": "rs771301700", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771301700" }, { "id": "rs771301700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771301700" }, { "id": "rs771301700", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771301700" } ], "glycoeffect": [], "start_pos": 1513, "end_pos": 1513, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073791", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1513", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1277051308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1277051308" }, { "id": "rs1277051308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1277051308" } ], "glycoeffect": [], "start_pos": 1514, "end_pos": 1514, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073788", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1437665984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437665984" }, { "id": "rs1437665984", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437665984" } ], "glycoeffect": [], "start_pos": 1515, "end_pos": 1515, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073785", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1515", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1365287561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365287561" }, { "id": "rs1365287561", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1365287561" } ], "glycoeffect": [], "start_pos": 1516, "end_pos": 1516, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073782", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1516", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778914982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778914982" }, { "id": "rs1778914982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778914982" } ], "glycoeffect": [], "start_pos": 1517, "end_pos": 1517, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073779", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1517", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376280627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376280627" }, { "id": "rs376280627", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376280627" }, { "id": "rs376280627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376280627#frequency_tab" }, { "id": "rs376280627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376280627" } ], "glycoeffect": [], "start_pos": 1518, "end_pos": 1518, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073776", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778913854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778913854" }, { "id": "rs1778913854", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778913854" } ], "glycoeffect": [], "start_pos": 1519, "end_pos": 1519, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073773", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1519", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373057447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373057447" }, { "id": "rs373057447", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373057447" }, { "id": "rs373057447", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373057447#frequency_tab" }, { "id": "rs373057447", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373057447" } ], "glycoeffect": [], "start_pos": 1519, "end_pos": 1519, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073772", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1519", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 151, "end_pos": 151, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097402", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L151", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs146120469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146120469" }, { "id": "rs146120469", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146120469" }, { "id": "rs146120469", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146120469" }, { "id": "rs146120469", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146120469#frequency_tab" }, { "id": "rs146120469", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146120469" } ], "glycoeffect": [], "start_pos": 1521, "end_pos": 1521, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073766", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00412088", "site_lbl": "A1521", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868656534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868656534" }, { "id": "rs868656534", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868656534" } ], "glycoeffect": [], "start_pos": 1522, "end_pos": 1522, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073764", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1522", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753387674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753387674" }, { "id": "rs753387674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753387674" }, { "id": "rs753387674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753387674" } ], "glycoeffect": [], "start_pos": 1524, "end_pos": 1524, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073758", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1524", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1488403436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488403436" }, { "id": "rs1488403436", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1488403436" } ], "glycoeffect": [], "start_pos": 1524, "end_pos": 1524, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073756", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1524", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779751914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779751914" }, { "id": "rs779751914", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779751914#frequency_tab" }, { "id": "rs779751914", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779751914" }, { "id": "rs779751914", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779751914" } ], "glycoeffect": [], "start_pos": 1525, "end_pos": 1525, "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073755", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1525", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs780494267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780494267" }, { "id": "rs780494267", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780494267" }, { "id": "rs780494267", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780494267#frequency_tab" }, { "id": "rs780494267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780494267" } ], "glycoeffect": [], "start_pos": 1525, "end_pos": 1525, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073754", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780494267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780494267" }, { "id": "rs780494267", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780494267" }, { "id": "rs780494267", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780494267#frequency_tab" }, { "id": "rs780494267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780494267" } ], "glycoeffect": [], "start_pos": 1525, "end_pos": 1525, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073754", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213041181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213041181" }, { "id": "rs1213041181", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213041181" } ], "glycoeffect": [], "start_pos": 1527, "end_pos": 1527, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073749", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1527", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs987362626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs987362626" }, { "id": "rs987362626", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs987362626#frequency_tab" }, { "id": "rs987362626", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs987362626" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1528, "end_pos": 1528, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073745", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1528", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778909961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778909961" }, { "id": "rs1778909961", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778909961" } ], "glycoeffect": [], "start_pos": 1529, "end_pos": 1529, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073742", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1529", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1243583800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243583800" }, { "id": "rs1243583800", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1243583800#frequency_tab" }, { "id": "rs1243583800", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243583800" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 152, "end_pos": 152, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097399", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483614935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483614935" } ], "glycoeffect": [], "start_pos": 1534, "end_pos": 1534, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073727", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1534", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767947459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767947459" }, { "id": "rs767947459", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767947459" }, { "id": "rs767947459", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767947459" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1538, "end_pos": 1538, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073716", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1538", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs552798448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552798448" }, { "id": "rs552798448", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs552798448" }, { "id": "rs552798448", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552798448" }, { "id": "rs552798448", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs552798448#frequency_tab" }, { "id": "rs552798448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs552798448" } ], "glycoeffect": [], "start_pos": 153, "end_pos": 153, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097396", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs552798448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552798448" }, { "id": "rs552798448", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs552798448" }, { "id": "rs552798448", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552798448" }, { "id": "rs552798448", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs552798448#frequency_tab" }, { "id": "rs552798448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs552798448" } ], "glycoeffect": [], "start_pos": 153, "end_pos": 153, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097396", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773546748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773546748" }, { "id": "rs773546748", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773546748" }, { "id": "rs773546748", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773546748#frequency_tab" }, { "id": "rs773546748", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773546748" }, { "id": "rs773546748", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773546748" } ], "glycoeffect": [], "start_pos": 153, "end_pos": 153, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097395", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R153", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs773546748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773546748" }, { "id": "rs773546748", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773546748" }, { "id": "rs773546748", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773546748#frequency_tab" }, { "id": "rs773546748", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773546748" } ], "glycoeffect": [], "start_pos": 153, "end_pos": 153, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097395", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1362941338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1362941338" }, { "id": "rs1362941338", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1362941338" } ], "glycoeffect": [], "start_pos": 1540, "end_pos": 1540, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073709", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1540", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778908775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778908775" }, { "id": "rs1778908775", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778908775#frequency_tab" }, { "id": "rs1778908775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778908775" }, { "id": "rs1778908775", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778908775" } ], "glycoeffect": [], "start_pos": 1540, "end_pos": 1540, "sequence_org": "M", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073710", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1540", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs757573988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757573988" }, { "id": "rs757573988", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757573988" }, { "id": "rs757573988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757573988" } ], "glycoeffect": [], "start_pos": 1541, "end_pos": 1541, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073706", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1541", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751815516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751815516" }, { "id": "rs751815516", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751815516" }, { "id": "rs751815516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751815516" } ], "glycoeffect": [], "start_pos": 1542, "end_pos": 1542, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073704", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1542", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1186563015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186563015" }, { "id": "rs1186563015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186563015#frequency_tab" } ], "glycoeffect": [], "start_pos": 1542, "end_pos": 1542, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073703", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1542", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1360920030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360920030" }, { "id": "rs1360920030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360920030" }, { "id": "rs1360920030", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1360920030" } ], "glycoeffect": [], "start_pos": 1544, "end_pos": 1544, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073698", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1544", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1778907501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778907501" }, { "id": "rs1778907501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778907501" } ], "glycoeffect": [], "start_pos": 1546, "end_pos": 1546, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073692", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1546", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1025025117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1025025117" }, { "id": "rs1025025117", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1025025117#frequency_tab" }, { "id": "rs1025025117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1025025117" } ], "glycoeffect": [], "start_pos": 1547, "end_pos": 1547, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073689", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1547", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1025025117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1025025117" }, { "id": "rs1025025117", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1025025117#frequency_tab" }, { "id": "rs1025025117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1025025117" } ], "glycoeffect": [], "start_pos": 1547, "end_pos": 1547, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073689", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1547", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764276191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764276191" }, { "id": "rs764276191", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764276191" }, { "id": "rs764276191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764276191" } ], "glycoeffect": [], "start_pos": 1548, "end_pos": 1548, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073685", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1548", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151921014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151921014" }, { "id": "rs2151921014", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151921014" } ], "glycoeffect": [], "start_pos": 1549, "end_pos": 1549, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073683", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1549", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 154, "end_pos": 154, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097392", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C154", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs865873272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865873272" }, { "id": "rs865873272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs865873272" } ], "glycoeffect": [], "start_pos": 1550, "end_pos": 1550, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073680", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1550", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763075781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763075781" }, { "id": "rs763075781", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763075781" }, { "id": "rs763075781", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763075781#frequency_tab" }, { "id": "rs763075781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763075781" }, { "id": "rs763075781", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763075781" } ], "glycoeffect": [], "start_pos": 1550, "end_pos": 1550, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073679", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1550", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs763075781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763075781" }, { "id": "rs763075781", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763075781" }, { "id": "rs763075781", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763075781#frequency_tab" }, { "id": "rs763075781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763075781" } ], "glycoeffect": [], "start_pos": 1550, "end_pos": 1550, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073679", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1550", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1430157478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430157478" }, { "id": "rs1430157478", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1430157478#frequency_tab" }, { "id": "rs1430157478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1430157478" } ], "glycoeffect": [], "start_pos": 1551, "end_pos": 1551, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073675", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1551", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778906089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778906089" }, { "id": "rs1778906089", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778906089#frequency_tab" }, { "id": "rs1778906089", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778906089" } ], "glycoeffect": [], "start_pos": 1551, "end_pos": 1551, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073677", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1551", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775647752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775647752" }, { "id": "rs775647752", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775647752" }, { "id": "rs775647752", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775647752#frequency_tab" }, { "id": "rs775647752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775647752" } ], "glycoeffect": [], "start_pos": 1552, "end_pos": 1552, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073673", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1552", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1477986984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477986984" }, { "id": "rs1477986984", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477986984" }, { "id": "rs1477986984", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1477986984" } ], "glycoeffect": [], "start_pos": 1552, "end_pos": 1552, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073674", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1552", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1483974773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483974773" }, { "id": "rs1483974773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483974773" } ], "glycoeffect": [], "start_pos": 1553, "end_pos": 1553, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073671", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778904633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778904633" }, { "id": "rs1778904633", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778904633" }, { "id": "rs1778904633", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778904633" } ], "glycoeffect": [], "start_pos": 1553, "end_pos": 1553, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073670", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1553", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1483974773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483974773" }, { "id": "rs1483974773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483974773" } ], "glycoeffect": [], "start_pos": 1553, "end_pos": 1553, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073671", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779291187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779291187" }, { "id": "rs779291187", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779291187" }, { "id": "rs779291187", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779291187#frequency_tab" }, { "id": "rs779291187", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779291187" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1555, "end_pos": 1555, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073664", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1555", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771942722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771942722" }, { "id": "rs771942722", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771942722" }, { "id": "rs771942722", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771942722#frequency_tab" }, { "id": "rs771942722", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771942722" } ], "glycoeffect": [], "start_pos": 1557, "end_pos": 1557, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073658", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1557", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1295158109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295158109" }, { "id": "rs1295158109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295158109" } ], "glycoeffect": [], "start_pos": 1558, "end_pos": 1558, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073655", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1558", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747934395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747934395" }, { "id": "rs747934395", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747934395" }, { "id": "rs747934395", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747934395" } ], "glycoeffect": [], "start_pos": 1558, "end_pos": 1558, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073656", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1558", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1381514646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1381514646" }, { "id": "rs1381514646", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1381514646#frequency_tab" }, { "id": "rs1381514646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1381514646" } ], "glycoeffect": [], "start_pos": 1559, "end_pos": 1559, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073653", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1559", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772323777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772323777" }, { "id": "rs772323777", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772323777" }, { "id": "rs772323777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772323777" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 155, "end_pos": 155, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097390", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs535714494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535714494" }, { "id": "rs535714494", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535714494" }, { "id": "rs535714494", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs535714494#frequency_tab" }, { "id": "rs535714494", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs535714494" }, { "id": "rs535714494", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs535714494" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1560, "end_pos": 1560, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073649", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1560", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1365818147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365818147" }, { "id": "rs1365818147", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1365818147" } ], "glycoeffect": [], "start_pos": 1561, "end_pos": 1561, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072298", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748880911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748880911" }, { "id": "rs748880911", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748880911" }, { "id": "rs748880911", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748880911#frequency_tab" }, { "id": "rs748880911", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748880911" } ], "glycoeffect": [], "start_pos": 1561, "end_pos": 1561, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073647", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748880911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748880911" }, { "id": "rs748880911", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748880911" }, { "id": "rs748880911", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748880911#frequency_tab" }, { "id": "rs748880911", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748880911" } ], "glycoeffect": [], "start_pos": 1561, "end_pos": 1561, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32073647", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1562, "end_pos": 1562, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072296", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1562", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs906389854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs906389854" }, { "id": "rs906389854", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs906389854" } ], "glycoeffect": [], "start_pos": 1563, "end_pos": 1563, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072292", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1563", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1442269562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442269562" }, { "id": "rs1442269562", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442269562" } ], "glycoeffect": [], "start_pos": 1564, "end_pos": 1564, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072289", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1564", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1564, "end_pos": 1564, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072289", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1564", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs767549927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767549927" }, { "id": "rs767549927", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767549927" }, { "id": "rs767549927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767549927" } ], "glycoeffect": [], "start_pos": 1564, "end_pos": 1564, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072290", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1564", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs199784025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199784025" }, { "id": "rs199784025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199784025" }, { "id": "rs199784025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199784025#frequency_tab" }, { "id": "rs199784025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199784025" } ], "glycoeffect": [], "start_pos": 1565, "end_pos": 1565, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072286", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1565", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199784025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199784025" }, { "id": "rs199784025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199784025" }, { "id": "rs199784025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199784025#frequency_tab" }, { "id": "rs199784025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199784025" } ], "glycoeffect": [], "start_pos": 1565, "end_pos": 1565, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072286", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1565", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778824128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778824128" }, { "id": "rs1778824128", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778824128" } ], "glycoeffect": [], "start_pos": 1567, "end_pos": 1567, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072280", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1567", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778823970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778823970" }, { "id": "rs1778823970", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778823970#frequency_tab" } ], "glycoeffect": [], "start_pos": 1568, "end_pos": 1568, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072277", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1568", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1445119291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445119291" }, { "id": "rs1445119291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445119291" }, { "id": "rs1445119291", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1445119291" } ], "glycoeffect": [], "start_pos": 156, "end_pos": 156, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097385", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C156", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1331242504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331242504" }, { "id": "rs1331242504", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1331242504" }, { "id": "rs1331242504", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1331242504" } ], "glycoeffect": [], "start_pos": 156, "end_pos": 156, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097386", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C156", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs774295104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774295104" }, { "id": "rs774295104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774295104" }, { "id": "rs774295104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774295104" } ], "glycoeffect": [], "start_pos": 1571, "end_pos": 1571, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072268", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374179831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374179831" }, { "id": "rs374179831", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374179831#frequency_tab" }, { "id": "rs374179831", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374179831" } ], "glycoeffect": [], "start_pos": 1571, "end_pos": 1571, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072269", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1571", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs774295104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774295104" }, { "id": "rs774295104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774295104" }, { "id": "rs774295104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774295104" } ], "glycoeffect": [], "start_pos": 1571, "end_pos": 1571, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072268", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1572, "end_pos": 1572, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072265", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1572", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1194439673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194439673" }, { "id": "rs1194439673", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194439673#frequency_tab" }, { "id": "rs1194439673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194439673" } ], "glycoeffect": [], "start_pos": 1573, "end_pos": 1573, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072263", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1489647639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1489647639" }, { "id": "rs1489647639", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1489647639#frequency_tab" }, { "id": "rs1489647639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1489647639" } ], "glycoeffect": [], "start_pos": 1573, "end_pos": 1573, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072261", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768512703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768512703" }, { "id": "rs768512703", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768512703" }, { "id": "rs768512703", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768512703" } ], "glycoeffect": [], "start_pos": 1574, "end_pos": 1574, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072260", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1574", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778821796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778821796" }, { "id": "rs1778821796", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778821796" } ], "glycoeffect": [], "start_pos": 1574, "end_pos": 1574, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072259", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1574", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1575, "end_pos": 1575, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072256", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1575", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748991428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748991428" }, { "id": "rs748991428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748991428" }, { "id": "rs748991428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748991428" } ], "glycoeffect": [], "start_pos": 1578, "end_pos": 1578, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072248", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1578", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs774965296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774965296" }, { "id": "rs774965296", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774965296" }, { "id": "rs774965296", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774965296#frequency_tab" }, { "id": "rs774965296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774965296" }, { "id": "rs774965296", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774965296" } ], "glycoeffect": [], "start_pos": 1579, "end_pos": 1579, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072245", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1579", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs142266956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142266956" }, { "id": "rs142266956", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142266956" }, { "id": "rs142266956", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142266956" }, { "id": "rs142266956", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142266956#frequency_tab" }, { "id": "rs142266956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142266956" } ], "glycoeffect": [], "start_pos": 1579, "end_pos": 1579, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072244", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1579", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774965296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774965296" }, { "id": "rs774965296", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774965296" }, { "id": "rs774965296", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774965296#frequency_tab" }, { "id": "rs774965296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774965296" } ], "glycoeffect": [], "start_pos": 1579, "end_pos": 1579, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072245", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1579", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 157, "end_pos": 157, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097383", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S157", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1170691445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170691445" }, { "id": "rs1170691445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170691445" } ], "glycoeffect": [], "start_pos": 1581, "end_pos": 1581, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072238", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1581", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1582, "end_pos": 1582, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072235", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E1582", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1009885940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009885940" }, { "id": "rs1009885940", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1009885940" } ], "glycoeffect": [], "start_pos": 1582, "end_pos": 1582, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072235", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1582", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1584, "end_pos": 1584, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072229", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1584", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs745343270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745343270" }, { "id": "rs745343270", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745343270" }, { "id": "rs745343270", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745343270#frequency_tab" }, { "id": "rs745343270", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745343270" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1586, "end_pos": 1586, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072223", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1586", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745343270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745343270" }, { "id": "rs745343270", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745343270" }, { "id": "rs745343270", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745343270#frequency_tab" }, { "id": "rs745343270", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745343270" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1586, "end_pos": 1586, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072223", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1586", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757753814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757753814" }, { "id": "rs757753814", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757753814" }, { "id": "rs757753814", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757753814" } ], "glycoeffect": [], "start_pos": 1587, "end_pos": 1587, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072220", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1587", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867305770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867305770" }, { "id": "rs867305770", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867305770#frequency_tab" } ], "glycoeffect": [], "start_pos": 1588, "end_pos": 1588, "sequence_org": "I", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072217", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1588", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867305770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867305770" }, { "id": "rs867305770", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867305770#frequency_tab" } ], "glycoeffect": [], "start_pos": 1588, "end_pos": 1588, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072217", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1588", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs569747700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569747700" }, { "id": "rs569747700", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs569747700" }, { "id": "rs569747700", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569747700" }, { "id": "rs569747700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs569747700#frequency_tab" }, { "id": "rs569747700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs569747700" }, { "id": "rs569747700", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs569747700" } ], "glycoeffect": [], "start_pos": 1588, "end_pos": 1588, "sequence_org": "I", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072218", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000784929", "site_lbl": "I1588", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2151919300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151919300" }, { "id": "rs2151919300", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151919300" } ], "glycoeffect": [], "start_pos": 1589, "end_pos": 1589, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072214", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1589", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1389734692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389734692" }, { "id": "rs1389734692", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1389734692#frequency_tab" } ], "glycoeffect": [], "start_pos": 1590, "end_pos": 1590, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072212", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1590", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1437696599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437696599" }, { "id": "rs1437696599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437696599#frequency_tab" }, { "id": "rs1437696599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437696599" } ], "glycoeffect": [], "start_pos": 1590, "end_pos": 1590, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072211", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1590", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1437696599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437696599" }, { "id": "rs1437696599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437696599#frequency_tab" }, { "id": "rs1437696599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437696599" } ], "glycoeffect": [], "start_pos": 1590, "end_pos": 1590, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072211", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1590", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs891472357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs891472357" }, { "id": "rs891472357", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs891472357#frequency_tab" }, { "id": "rs891472357", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs891472357" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1592, "end_pos": 1592, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072205", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1592", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs891472357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs891472357" }, { "id": "rs891472357", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs891472357#frequency_tab" }, { "id": "rs891472357", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs891472357" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1592, "end_pos": 1592, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072205", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1592", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483604684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483604684" } ], "glycoeffect": [], "start_pos": 1593, "end_pos": 1593, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072201CA", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1593", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1594, "end_pos": 1594, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072200", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1594", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1363756520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363756520" }, { "id": "rs1363756520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363756520" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1596, "end_pos": 1596, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072193", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1597, "end_pos": 1597, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072190", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W1597", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778816402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778816402" }, { "id": "rs1778816402", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778816402" } ], "glycoeffect": [], "start_pos": 1597, "end_pos": 1597, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072191", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1597", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1599, "end_pos": 1599, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072184", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1599", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 159, "end_pos": 159, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097378", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E159", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1192231411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192231411" }, { "id": "rs1192231411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1192231411#frequency_tab" }, { "id": "rs1192231411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1192231411" } ], "glycoeffect": [], "start_pos": 1600, "end_pos": 1600, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072182", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1600", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1475833749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475833749" }, { "id": "rs1475833749", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475833749" } ], "glycoeffect": [], "start_pos": 1601, "end_pos": 1601, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072179", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1601", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778815272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778815272" } ], "glycoeffect": [], "start_pos": 1601, "end_pos": 1601, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072178", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1601", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1778815272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778815272" }, { "id": "rs1778815272", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778815272#frequency_tab" } ], "glycoeffect": [], "start_pos": 1601, "end_pos": 1601, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072178", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1601", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1604, "end_pos": 1604, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072169", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F1604", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs554703532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554703532" }, { "id": "rs554703532", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554703532" }, { "id": "rs554703532", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554703532" }, { "id": "rs554703532", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554703532" }, { "id": "rs536054720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536054720" }, { "id": "rs536054720", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536054720" }, { "id": "rs536054720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536054720" }, { "id": "rs536054720", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs536054720#frequency_tab" }, { "id": "rs536054720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536054720" } ], "glycoeffect": [], "start_pos": 1604, "end_pos": 1604, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072170", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "F1604", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs565606966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565606966" }, { "id": "rs565606966", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565606966" }, { "id": "rs565606966", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565606966" }, { "id": "rs565606966", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565606966#frequency_tab" }, { "id": "rs565606966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565606966" }, { "id": "rs565606966", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565606966" } ], "glycoeffect": [], "start_pos": 1605, "end_pos": 1605, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072167", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1605", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1047141638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1047141638" }, { "id": "rs1047141638", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1047141638#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1606, "end_pos": 1606, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072163", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1606", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753860861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753860861" }, { "id": "rs753860861", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753860861" }, { "id": "rs753860861", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753860861" } ], "glycoeffect": [], "start_pos": 1607, "end_pos": 1607, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072160", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778813161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778813161" }, { "id": "rs1778813161", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778813161" }, { "id": "rs1778813161", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778813161" } ], "glycoeffect": [], "start_pos": 1608, "end_pos": 1608, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072158", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1608", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1304232078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304232078" }, { "id": "rs1304232078", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1304232078#frequency_tab" }, { "id": "rs1304232078", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304232078" } ], "glycoeffect": [], "start_pos": 160, "end_pos": 160, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097375", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 160, "end_pos": 160, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097375", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P160", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1610, "end_pos": 1610, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072152", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q1610", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778812534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778812534" }, { "id": "rs1778812534", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778812534" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1611, "end_pos": 1611, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072147", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1611", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778812721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778812721" }, { "id": "rs1778812721", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778812721#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1611, "end_pos": 1611, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072149", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1611", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1613, "end_pos": 1613, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072141", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1613", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs547312711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547312711" }, { "id": "rs547312711", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547312711" }, { "id": "rs547312711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547312711" } ], "glycoeffect": [], "start_pos": 1613, "end_pos": 1613, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072143", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1613", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751491483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751491483" }, { "id": "rs751491483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751491483" }, { "id": "rs751491483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751491483#frequency_tab" }, { "id": "rs751491483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751491483" } ], "glycoeffect": [], "start_pos": 1616, "end_pos": 1616, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072134", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1616", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244716570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244716570" }, { "id": "rs1244716570", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1244716570" } ], "glycoeffect": [], "start_pos": 1617, "end_pos": 1617, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072129", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1617", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1617, "end_pos": 1617, "subjects_tested": "2003", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072130", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q1617", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1235302367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235302367" }, { "id": "rs1235302367", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235302367" } ], "glycoeffect": [], "start_pos": 1618, "end_pos": 1618, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072127", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1618", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324056823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324056823" }, { "id": "rs1324056823", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324056823" } ], "glycoeffect": [], "start_pos": 1619, "end_pos": 1619, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072124", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1619", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2127293410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127293410" }, { "id": "rs2127293410", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127293410" } ], "glycoeffect": [], "start_pos": 161, "end_pos": 161, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097371", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G161", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778810746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778810746" }, { "id": "rs1778810746", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778810746" } ], "glycoeffect": [], "start_pos": 1620, "end_pos": 1620, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072121", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1620", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372387718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372387718" }, { "id": "rs372387718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372387718" }, { "id": "rs372387718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372387718#frequency_tab" }, { "id": "rs372387718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372387718" } ], "glycoeffect": [], "start_pos": 1621, "end_pos": 1621, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072119", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1621", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372387718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372387718" }, { "id": "rs372387718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372387718" }, { "id": "rs372387718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372387718#frequency_tab" }, { "id": "rs372387718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372387718" } ], "glycoeffect": [], "start_pos": 1621, "end_pos": 1621, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072119", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1621", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs549598494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549598494" }, { "id": "rs549598494", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs549598494" }, { "id": "rs549598494", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549598494" }, { "id": "rs549598494", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs549598494#frequency_tab" }, { "id": "rs549598494", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs549598494" } ], "glycoeffect": [], "start_pos": 1623, "end_pos": 1623, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072113", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V1623", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs549598494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549598494" }, { "id": "rs549598494", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs549598494" }, { "id": "rs549598494", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549598494" }, { "id": "rs549598494", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs549598494#frequency_tab" }, { "id": "rs549598494", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs549598494" } ], "glycoeffect": [], "start_pos": 1623, "end_pos": 1623, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072113", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V1623", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776121487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776121487" }, { "id": "rs776121487", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776121487" }, { "id": "rs776121487", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776121487" } ], "glycoeffect": [], "start_pos": 1624, "end_pos": 1624, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072109", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1624", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778809080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778809080" }, { "id": "rs1778809080", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778809080#frequency_tab" }, { "id": "rs1778809080", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778809080" } ], "glycoeffect": [], "start_pos": 1625, "end_pos": 1625, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072107", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1625", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1627, "end_pos": 1627, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072099", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q1627", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs778225485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778225485" }, { "id": "rs778225485", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778225485" }, { "id": "rs778225485", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778225485#frequency_tab" }, { "id": "rs778225485", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778225485" } ], "glycoeffect": [], "start_pos": 1628, "end_pos": 1628, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072097", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1628", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs747549013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747549013" }, { "id": "rs747549013", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747549013" }, { "id": "rs747549013", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747549013#frequency_tab" }, { "id": "rs747549013", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747549013" }, { "id": "rs747549013", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747549013" } ], "glycoeffect": [], "start_pos": 1628, "end_pos": 1628, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072098", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1628", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs78493656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78493656" }, { "id": "rs78493656", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78493656" }, { "id": "rs78493656", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78493656" }, { "id": "rs78493656", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs78493656#frequency_tab" }, { "id": "rs78493656", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78493656" }, { "id": "rs78493656", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78493656" } ], "glycoeffect": [], "start_pos": 1629, "end_pos": 1629, "subjects_tested": "606", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072095", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1629", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 162, "end_pos": 162, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097368", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W162", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 162, "end_pos": 162, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097369", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W162", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778807529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778807529" }, { "id": "rs1778807529", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778807529#frequency_tab" } ], "glycoeffect": [], "start_pos": 1630, "end_pos": 1630, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072092", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151919102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151919102" }, { "id": "rs2151919102", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151919102" } ], "glycoeffect": [], "start_pos": 1630, "end_pos": 1630, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072091", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778807144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778807144" }, { "id": "rs1778807144", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778807144" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1631, "end_pos": 1631, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072089", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1631", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483603372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483603372" } ], "glycoeffect": [], "start_pos": 1632, "end_pos": 1632, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072084", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1632", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766602645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766602645" }, { "id": "rs766602645", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766602645" }, { "id": "rs766602645", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766602645#frequency_tab" }, { "id": "rs766602645", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766602645" } ], "glycoeffect": [], "start_pos": 1632, "end_pos": 1632, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072086", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1632", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs1778806523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778806523" }, { "id": "rs1778806523", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778806523#frequency_tab" } ], "glycoeffect": [], "start_pos": 1633, "end_pos": 1633, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072082", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1633", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1633, "end_pos": 1633, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072083", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1633", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1349601739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349601739" }, { "id": "rs1349601739", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1349601739" } ], "glycoeffect": [], "start_pos": 1634, "end_pos": 1634, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072080", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1634", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs992498462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs992498462" }, { "id": "rs992498462", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs992498462#frequency_tab" }, { "id": "rs992498462", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs992498462" } ], "glycoeffect": [], "start_pos": 1635, "end_pos": 1635, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072077", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1635", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755161052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755161052" }, { "id": "rs755161052", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755161052" }, { "id": "rs755161052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755161052" } ], "glycoeffect": [], "start_pos": 1636, "end_pos": 1636, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072074", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1636", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1636, "end_pos": 1636, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072074", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E1636", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1194113762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194113762" }, { "id": "rs1194113762", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194113762#frequency_tab" }, { "id": "rs1194113762", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194113762" } ], "glycoeffect": [], "start_pos": 1637, "end_pos": 1637, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072071", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1637", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483603209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483603209" } ], "glycoeffect": [], "start_pos": 1637, "end_pos": 1637, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072070", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1637", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1194113762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194113762" }, { "id": "rs1194113762", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194113762#frequency_tab" }, { "id": "rs1194113762", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194113762" } ], "glycoeffect": [], "start_pos": 1637, "end_pos": 1637, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072071", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1637", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs370049143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370049143" }, { "id": "rs370049143", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370049143" }, { "id": "rs370049143", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370049143#frequency_tab" }, { "id": "rs370049143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370049143" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1638, "end_pos": 1638, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072067", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1638", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs780301586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780301586" }, { "id": "rs780301586", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780301586" }, { "id": "rs780301586", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780301586#frequency_tab" }, { "id": "rs780301586", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780301586" } ], "glycoeffect": [], "start_pos": 1639, "end_pos": 1639, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072065", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1639", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780301586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780301586" }, { "id": "rs780301586", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780301586" }, { "id": "rs780301586", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780301586#frequency_tab" }, { "id": "rs780301586", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780301586" } ], "glycoeffect": [], "start_pos": 1639, "end_pos": 1639, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072065", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1639", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756221645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756221645" }, { "id": "rs756221645", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756221645" }, { "id": "rs756221645", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756221645#frequency_tab" }, { "id": "rs756221645", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756221645" } ], "glycoeffect": [], "start_pos": 1639, "end_pos": 1639, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072064", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1639", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1639, "end_pos": 1639, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072064", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1639", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780473824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780473824" }, { "id": "rs1780473824", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780473824#frequency_tab" } ], "glycoeffect": [], "start_pos": 163, "end_pos": 163, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097365", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780473824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780473824" }, { "id": "rs1780473824", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780473824#frequency_tab" } ], "glycoeffect": [], "start_pos": 163, "end_pos": 163, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097365", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 163, "end_pos": 163, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097366", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G163", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs374991528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374991528" }, { "id": "rs374991528", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374991528" }, { "id": "rs374991528", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374991528#frequency_tab" }, { "id": "rs374991528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374991528" } ], "glycoeffect": [], "start_pos": 1640, "end_pos": 1640, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072062", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1640", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1640, "end_pos": 1640, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072060", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1640", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs374991528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374991528" }, { "id": "rs374991528", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374991528" }, { "id": "rs374991528", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374991528#frequency_tab" }, { "id": "rs374991528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374991528" } ], "glycoeffect": [], "start_pos": 1640, "end_pos": 1640, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072062", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1640", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1262353356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262353356" }, { "id": "rs1262353356", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262353356" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1641, "end_pos": 1641, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072057", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1641", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764100849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764100849" }, { "id": "rs764100849", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764100849" }, { "id": "rs764100849", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764100849#frequency_tab" }, { "id": "rs764100849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764100849" } ], "glycoeffect": [], "start_pos": 1642, "end_pos": 1642, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072054", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1642", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778803592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778803592" }, { "id": "rs1778803592", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778803592" } ], "glycoeffect": [], "start_pos": 1642, "end_pos": 1642, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072055", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1642", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1293823599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293823599" }, { "id": "rs1293823599", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1293823599" } ], "glycoeffect": [], "start_pos": 1643, "end_pos": 1643, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072052", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1643", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778802691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778802691" }, { "id": "rs1778802691", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778802691" } ], "glycoeffect": [], "start_pos": 1644, "end_pos": 1644, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072049", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1644", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762859726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762859726" }, { "id": "rs762859726", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762859726" }, { "id": "rs762859726", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762859726#frequency_tab" }, { "id": "rs762859726", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762859726" } ], "glycoeffect": [], "start_pos": 1644, "end_pos": 1644, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072050", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1644", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752427934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752427934" }, { "id": "rs752427934", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752427934" }, { "id": "rs752427934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752427934" } ], "glycoeffect": [], "start_pos": 1645, "end_pos": 1645, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072047", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1647, "end_pos": 1647, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072040", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1647", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1335605696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335605696" }, { "id": "rs1335605696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335605696" } ], "glycoeffect": [], "start_pos": 1649, "end_pos": 1649, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072033", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1649", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770472122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770472122" }, { "id": "rs770472122", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770472122" }, { "id": "rs770472122", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770472122" } ], "glycoeffect": [], "start_pos": 1650, "end_pos": 1650, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072030", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1650", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776229083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776229083" }, { "id": "rs776229083", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776229083" }, { "id": "rs776229083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776229083" } ], "glycoeffect": [], "start_pos": 1650, "end_pos": 1650, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072031", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1650", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1651, "end_pos": 1651, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072028", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1651", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs963344266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs963344266" }, { "id": "rs963344266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs963344266#frequency_tab" }, { "id": "rs963344266", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs963344266" } ], "glycoeffect": [], "start_pos": 1651, "end_pos": 1651, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072029", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1651", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201184519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201184519" }, { "id": "rs201184519", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201184519" }, { "id": "rs201184519", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201184519" }, { "id": "rs201184519", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201184519" }, { "id": "rs201184519", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201184519" } ], "glycoeffect": [], "start_pos": 1653, "end_pos": 1653, "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072023", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1653", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs772454700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772454700" }, { "id": "rs772454700", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772454700" }, { "id": "rs772454700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772454700#frequency_tab" }, { "id": "rs772454700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772454700" } ], "glycoeffect": [], "start_pos": 1653, "end_pos": 1653, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072022", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1653", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772454700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772454700" }, { "id": "rs772454700", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772454700" }, { "id": "rs772454700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772454700#frequency_tab" }, { "id": "rs772454700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772454700" }, { "id": "rs772454700", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772454700" } ], "glycoeffect": [], "start_pos": 1653, "end_pos": 1653, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072022", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1653", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs748623597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748623597" }, { "id": "rs748623597", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748623597" }, { "id": "rs748623597", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748623597#frequency_tab" }, { "id": "rs748623597", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748623597" } ], "glycoeffect": [], "start_pos": 1654, "end_pos": 1654, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072020", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1654", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs779160751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779160751" }, { "id": "rs779160751", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779160751" }, { "id": "rs779160751", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779160751#frequency_tab" }, { "id": "rs779160751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779160751" }, { "id": "rs779160751", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779160751" } ], "glycoeffect": [], "start_pos": 1654, "end_pos": 1654, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072019", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1654", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1655, "end_pos": 1655, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072016", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1655", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1051593704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1051593704" }, { "id": "rs1051593704", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1051593704#frequency_tab" }, { "id": "rs1051593704", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1051593704" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1655, "end_pos": 1655, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32072015", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1655", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs749552054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749552054" }, { "id": "rs749552054", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749552054" }, { "id": "rs749552054", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749552054" }, { "id": "rs749552054", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749552054" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1658, "end_pos": 1658, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32072008", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S1658", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs779024434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779024434" }, { "id": "rs779024434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779024434" }, { "id": "rs779024434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779024434" } ], "glycoeffect": [], "start_pos": 165, "end_pos": 165, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097359", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1661, "end_pos": 1661, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32071999", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1661", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1662, "end_pos": 1662, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32071994", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K1662", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs571091666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs571091666" }, { "id": "rs571091666", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs571091666" }, { "id": "rs571091666", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs571091666" }, { "id": "rs571091666", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs571091666#frequency_tab" }, { "id": "rs571091666", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs571091666" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1663, "end_pos": 1663, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32071992", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1663", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778798121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778798121" }, { "id": "rs1778798121", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778798121#frequency_tab" }, { "id": "rs1778798121", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778798121" } ], "glycoeffect": [], "start_pos": 1664, "end_pos": 1664, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32071990", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1664", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770132201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770132201" }, { "id": "rs770132201", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770132201" }, { "id": "rs770132201", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770132201#frequency_tab" }, { "id": "rs770132201", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770132201" } ], "glycoeffect": [], "start_pos": 1665, "end_pos": 1665, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070411", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1665", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775912582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775912582" }, { "id": "rs775912582", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775912582" }, { "id": "rs775912582", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775912582" } ], "glycoeffect": [], "start_pos": 1665, "end_pos": 1665, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070412", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1665", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770132201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770132201" }, { "id": "rs770132201", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770132201" }, { "id": "rs770132201", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770132201#frequency_tab" }, { "id": "rs770132201", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770132201" } ], "glycoeffect": [], "start_pos": 1665, "end_pos": 1665, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070411", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1665", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs746016355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746016355" }, { "id": "rs746016355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746016355" }, { "id": "rs746016355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746016355" }, { "id": "rs746016355", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746016355" } ], "glycoeffect": [], "start_pos": 1666, "end_pos": 1666, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070409", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1666", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs560985106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560985106" }, { "id": "rs560985106", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560985106" }, { "id": "rs560985106", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560985106" }, { "id": "rs560985106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs560985106#frequency_tab" }, { "id": "rs560985106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs560985106" } ], "glycoeffect": [], "start_pos": 1666, "end_pos": 1666, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070408", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1666", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs560985106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560985106" }, { "id": "rs560985106", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560985106" }, { "id": "rs560985106", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560985106" }, { "id": "rs560985106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs560985106#frequency_tab" }, { "id": "rs560985106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs560985106" } ], "glycoeffect": [], "start_pos": 1666, "end_pos": 1666, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070408", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1666", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs560985106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560985106" }, { "id": "rs560985106", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560985106" }, { "id": "rs560985106", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560985106" }, { "id": "rs560985106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs560985106#frequency_tab" }, { "id": "rs560985106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs560985106" }, { "id": "rs560985106", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560985106" } ], "glycoeffect": [], "start_pos": 1666, "end_pos": 1666, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070408", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1666", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1441959050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441959050" }, { "id": "rs1441959050", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441959050" } ], "glycoeffect": [], "start_pos": 1667, "end_pos": 1667, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070406", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1667", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778702683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778702683" }, { "id": "rs1778702683", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778702683" } ], "glycoeffect": [], "start_pos": 1667, "end_pos": 1667, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070405", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1667", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1425529234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425529234" }, { "id": "rs1425529234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1425529234" } ], "glycoeffect": [], "start_pos": 1669, "end_pos": 1669, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070399", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1669", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778890919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778890919" }, { "id": "rs778890919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778890919" }, { "id": "rs778890919", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778890919#frequency_tab" }, { "id": "rs778890919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778890919" } ], "glycoeffect": [], "start_pos": 1669, "end_pos": 1669, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070400", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1669", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs778890919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778890919" }, { "id": "rs778890919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778890919" }, { "id": "rs778890919", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778890919#frequency_tab" }, { "id": "rs778890919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778890919" }, { "id": "rs778890919", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs778890919" } ], "glycoeffect": [], "start_pos": 1669, "end_pos": 1669, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070400", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1669", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1778701472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778701472" }, { "id": "rs1778701472", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778701472" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1670, "end_pos": 1670, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070397", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1670", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778701272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778701272" }, { "id": "rs1778701272", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778701272" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1670, "end_pos": 1670, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070395", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1670", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1161763623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161763623" }, { "id": "rs1161763623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1161763623" } ], "glycoeffect": [], "start_pos": 1671, "end_pos": 1671, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070393", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1671", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1402453701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402453701" }, { "id": "rs1402453701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402453701" } ], "glycoeffect": [], "start_pos": 1673, "end_pos": 1673, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070388", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1673", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1402453701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402453701" }, { "id": "rs1402453701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402453701" } ], "glycoeffect": [], "start_pos": 1673, "end_pos": 1673, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070388", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1673", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778700468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778700468" }, { "id": "rs1778700468", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778700468#frequency_tab" } ], "glycoeffect": [], "start_pos": 1674, "end_pos": 1674, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070384", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1674", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753626007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753626007" }, { "id": "rs753626007", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753626007" }, { "id": "rs753626007", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753626007#frequency_tab" }, { "id": "rs753626007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753626007" } ], "glycoeffect": [], "start_pos": 1675, "end_pos": 1675, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070381", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753626007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753626007" }, { "id": "rs753626007", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753626007" }, { "id": "rs753626007", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753626007#frequency_tab" }, { "id": "rs753626007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753626007" } ], "glycoeffect": [], "start_pos": 1675, "end_pos": 1675, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070381", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs766097197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766097197" }, { "id": "rs766097197", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766097197" }, { "id": "rs766097197", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766097197#frequency_tab" }, { "id": "rs766097197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766097197" }, { "id": "rs766097197", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766097197" } ], "glycoeffect": [], "start_pos": 1676, "end_pos": 1676, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070379", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1676", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs755779024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755779024" }, { "id": "rs755779024", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755779024" }, { "id": "rs755779024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755779024" }, { "id": "rs755779024", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755779024" } ], "glycoeffect": [], "start_pos": 1676, "end_pos": 1676, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070378", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1676", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1677, "end_pos": 1677, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070376", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L1677", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778698837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778698837" }, { "id": "rs1778698837", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778698837#frequency_tab" }, { "id": "rs1778698837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778698837" } ], "glycoeffect": [], "start_pos": 1677, "end_pos": 1677, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070375", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1677", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1490081529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1490081529" }, { "id": "rs1490081529", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1490081529#frequency_tab" }, { "id": "rs1490081529", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1490081529" } ], "glycoeffect": [], "start_pos": 1677, "end_pos": 1677, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070376", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1677", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1679, "end_pos": 1679, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070370", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1679", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768737990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768737990" }, { "id": "rs768737990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768737990" }, { "id": "rs768737990", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768737990#frequency_tab" }, { "id": "rs768737990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768737990" } ], "glycoeffect": [], "start_pos": 167, "end_pos": 167, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097354", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C167", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766964725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766964725" }, { "id": "rs766964725", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766964725" }, { "id": "rs766964725", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766964725" } ], "glycoeffect": [], "start_pos": 1680, "end_pos": 1680, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070367", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1680", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs572158740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572158740" }, { "id": "rs572158740", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572158740" }, { "id": "rs572158740", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572158740" }, { "id": "rs572158740", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572158740" } ], "glycoeffect": [], "start_pos": 1681, "end_pos": 1681, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070363", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W1681", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs761353404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761353404" }, { "id": "rs761353404", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761353404" }, { "id": "rs761353404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761353404" } ], "glycoeffect": [], "start_pos": 1681, "end_pos": 1681, "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070364", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1681", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761353404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761353404" }, { "id": "rs761353404", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761353404" }, { "id": "rs761353404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761353404" } ], "glycoeffect": [], "start_pos": 1681, "end_pos": 1681, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070364", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1681", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778697805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778697805" }, { "id": "rs1778697805", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778697805" } ], "glycoeffect": [], "start_pos": 1682, "end_pos": 1682, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070361", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1682", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764156170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764156170" }, { "id": "rs764156170", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764156170" }, { "id": "rs764156170", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764156170" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1683, "end_pos": 1683, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070358", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1683", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763473499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763473499" }, { "id": "rs763473499", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763473499" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1683, "end_pos": 1683, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070357", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1683", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776883744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776883744" }, { "id": "rs776883744", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776883744" }, { "id": "rs776883744", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776883744#frequency_tab" }, { "id": "rs776883744", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776883744" } ], "glycoeffect": [], "start_pos": 1684, "end_pos": 1684, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070353", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1684", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs746112759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746112759" }, { "id": "rs746112759", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746112759" }, { "id": "rs746112759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746112759" } ], "glycoeffect": [], "start_pos": 1684, "end_pos": 1684, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070354", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1684", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770222271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770222271" }, { "id": "rs770222271", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770222271" }, { "id": "rs770222271", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770222271#frequency_tab" }, { "id": "rs770222271", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770222271" } ], "glycoeffect": [], "start_pos": 1684, "end_pos": 1684, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070355", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1684", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1684, "end_pos": 1684, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070355", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1684", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1685, "end_pos": 1685, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070352", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P1685", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs560219178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560219178" }, { "id": "rs560219178", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560219178" } ], "glycoeffect": [], "start_pos": 1685, "end_pos": 1685, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070352", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1685", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1301482577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301482577" }, { "id": "rs1301482577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301482577" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1686, "end_pos": 1686, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070349", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1686", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1433007164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1433007164" }, { "id": "rs1433007164", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1433007164" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1686, "end_pos": 1686, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070348", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1686", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778695544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778695544" }, { "id": "rs1778695544", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778695544" } ], "glycoeffect": [], "start_pos": 1687, "end_pos": 1687, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070346", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1687", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1687, "end_pos": 1687, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070346", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1687", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1158349501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1158349501" }, { "id": "rs1158349501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1158349501#frequency_tab" }, { "id": "rs1158349501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1158349501" } ], "glycoeffect": [], "start_pos": 1688, "end_pos": 1688, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070341", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1688", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749260392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749260392" }, { "id": "rs749260392", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749260392" }, { "id": "rs749260392", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749260392#frequency_tab" }, { "id": "rs749260392", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749260392" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 168, "end_pos": 168, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097350", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S168", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1398879319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398879319" }, { "id": "rs1398879319", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1398879319#frequency_tab" }, { "id": "rs1398879319", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398879319" }, { "id": "rs1398879319", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1398879319" } ], "glycoeffect": [], "start_pos": 1691, "end_pos": 1691, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070334", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1691", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1442622305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442622305" }, { "id": "rs1442622305", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1442622305#frequency_tab" }, { "id": "rs1442622305", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442622305" } ], "glycoeffect": [], "start_pos": 1691, "end_pos": 1691, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070333", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1691", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398879319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398879319" } ], "glycoeffect": [], "start_pos": 1691, "end_pos": 1691, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070334", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1691", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1431241491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431241491" }, { "id": "rs1431241491", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431241491" } ], "glycoeffect": [], "start_pos": 1692, "end_pos": 1692, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070330", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1692", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778694266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778694266" }, { "id": "rs1778694266", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778694266" } ], "glycoeffect": [], "start_pos": 1692, "end_pos": 1692, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070331", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1692", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1582411796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582411796" }, { "id": "rs1582411796", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582411796" }, { "id": "rs1582411796", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1582411796" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1693, "end_pos": 1693, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070327", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1693", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs770969069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770969069" }, { "id": "rs770969069", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770969069" }, { "id": "rs770969069", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770969069#frequency_tab" }, { "id": "rs770969069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770969069" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1693, "end_pos": 1693, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070328", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1693", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1485930492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485930492" }, { "id": "rs1485930492", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1485930492" }, { "id": "rs1485930492", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1485930492" } ], "glycoeffect": [], "start_pos": 1694, "end_pos": 1694, "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070323", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1694", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2151917052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151917052" }, { "id": "rs2151917052", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151917052" } ], "glycoeffect": [], "start_pos": 1694, "end_pos": 1694, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070323", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1694", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1694, "end_pos": 1694, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070324", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W1694", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201973085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201973085" }, { "id": "rs201973085", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201973085" }, { "id": "rs201973085", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201973085#frequency_tab" }, { "id": "rs201973085", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201973085" }, { "id": "rs201973085", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201973085" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1695, "end_pos": 1695, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070321", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1695", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1697, "end_pos": 1697, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070315", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1697", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1697, "end_pos": 1697, "subjects_tested": "2053", "subjects_positive": "5", "frequency": "0.2", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070316", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1697", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs2151917032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151917032" }, { "id": "rs2151917032", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151917032" } ], "glycoeffect": [], "start_pos": 1698, "end_pos": 1698, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070313", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1698", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 169, "end_pos": 169, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097348", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D169", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780472803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780472803" }, { "id": "rs1780472803", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780472803#frequency_tab" }, { "id": "rs1780472803", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780472803" } ], "glycoeffect": [], "start_pos": 169, "end_pos": 169, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097348", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 169, "end_pos": 169, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097348", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D169", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs754301945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754301945" }, { "id": "rs754301945", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754301945" }, { "id": "rs754301945", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754301945#frequency_tab" }, { "id": "rs754301945", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754301945" } ], "glycoeffect": [], "start_pos": 16, "end_pos": 16, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098152", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V16", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 16, "end_pos": 16, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045174", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V16", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs200248536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200248536" }, { "id": "rs200248536", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200248536" }, { "id": "rs200248536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200248536" } ], "glycoeffect": [], "start_pos": 1700, "end_pos": 1700, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070307", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1700", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749166979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749166979" }, { "id": "rs749166979", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749166979" }, { "id": "rs749166979", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749166979" } ], "glycoeffect": [], "start_pos": 1700, "end_pos": 1700, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070305", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1700", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201360247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201360247" }, { "id": "rs201360247", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201360247" }, { "id": "rs201360247", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201360247" }, { "id": "rs201360247", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201360247#frequency_tab" }, { "id": "rs201360247", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201360247" } ], "glycoeffect": [], "start_pos": 1701, "end_pos": 1701, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070302", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1701", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs756774330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756774330" }, { "id": "rs756774330", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756774330" }, { "id": "rs756774330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756774330" } ], "glycoeffect": [], "start_pos": 1702, "end_pos": 1702, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070300", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1702", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs780874838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780874838" }, { "id": "rs780874838", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780874838" }, { "id": "rs780874838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780874838#frequency_tab" }, { "id": "rs780874838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780874838" } ], "glycoeffect": [], "start_pos": 1702, "end_pos": 1702, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070301", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1702", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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", "germline" ] }, { "evidence": [ { "id": "rs780874838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780874838" }, { "id": "rs780874838", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780874838" }, { "id": "rs780874838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780874838#frequency_tab" }, { "id": "rs780874838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780874838" } ], "glycoeffect": [], "start_pos": 1702, "end_pos": 1702, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070301", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1702", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1323214355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323214355" }, { "id": "rs1323214355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1323214355#frequency_tab" }, { "id": "rs1323214355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323214355" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1703, "end_pos": 1703, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070298", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1703", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1703, "end_pos": 1703, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070297", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1703", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1704, "end_pos": 1704, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070295", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F1704", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751075681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751075681" }, { "id": "rs751075681", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751075681" }, { "id": "rs751075681", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751075681#frequency_tab" }, { "id": "rs751075681", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751075681" } ], "glycoeffect": [], "start_pos": 1705, "end_pos": 1705, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070291", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1705", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1013143027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1013143027" }, { "id": "rs1013143027", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1013143027" } ], "glycoeffect": [], "start_pos": 1705, "end_pos": 1705, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070292", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1705", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1338190417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338190417" }, { "id": "rs1338190417", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1338190417#frequency_tab" }, { "id": "rs1338190417", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1338190417" }, { "id": "rs1338190417", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1338190417" } ], "glycoeffect": [], "start_pos": 1707, "end_pos": 1707, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070284", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q1707", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1249054845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249054845" }, { "id": "rs1249054845", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1249054845#frequency_tab" }, { "id": "rs1249054845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249054845" } ], "glycoeffect": [], "start_pos": 1707, "end_pos": 1707, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070285", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1707", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763441784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763441784" }, { "id": "rs763441784", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763441784" }, { "id": "rs763441784", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763441784#frequency_tab" }, { "id": "rs763441784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763441784" } ], "glycoeffect": [], "start_pos": 1708, "end_pos": 1708, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070281", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1708", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766095244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766095244" }, { "id": "rs766095244", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs766095244" } ], "glycoeffect": [], "start_pos": 1708, "end_pos": 1708, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070282", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1708", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1379680812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379680812" }, { "id": "rs1379680812", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1379680812#frequency_tab" }, { "id": "rs1379680812", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379680812" } ], "glycoeffect": [], "start_pos": 170, "end_pos": 170, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097344", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582479297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582479297" }, { "id": "rs1582479297", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1582479297#frequency_tab" } ], "glycoeffect": [], "start_pos": 170, "end_pos": 170, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097345", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582411506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582411506" }, { "id": "rs1582411506", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582411506" } ], "glycoeffect": [], "start_pos": 1710, "end_pos": 1710, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070276", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1710", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1712, "end_pos": 1712, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070271", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1712", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778687444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778687444" }, { "id": "rs1778687444", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778687444" } ], "glycoeffect": [], "start_pos": 1713, "end_pos": 1713, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070267", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1713", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs765739631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765739631" }, { "id": "rs765739631", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765739631" }, { "id": "rs765739631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765739631" }, { "id": "rs765739631", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765739631" } ], "glycoeffect": [], "start_pos": 1713, "end_pos": 1713, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070268", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1713", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1713, "end_pos": 1713, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070268", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G1713", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs759959912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759959912" }, { "id": "rs759959912", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759959912" }, { "id": "rs759959912", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759959912" } ], "glycoeffect": [], "start_pos": 1714, "end_pos": 1714, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070264", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1714", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469142800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469142800" }, { "id": "rs1469142800", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469142800" } ], "glycoeffect": [], "start_pos": 1714, "end_pos": 1714, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070265", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1714", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776779743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776779743" }, { "id": "rs776779743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776779743" }, { "id": "rs776779743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776779743" } ], "glycoeffect": [], "start_pos": 1715, "end_pos": 1715, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070260", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1715", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771184296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771184296" }, { "id": "rs771184296", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771184296" }, { "id": "rs771184296", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771184296#frequency_tab" }, { "id": "rs771184296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771184296" } ], "glycoeffect": [], "start_pos": 1716, "end_pos": 1716, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070259", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1716", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778686007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778686007" }, { "id": "rs1778686007", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778686007#frequency_tab" } ], "glycoeffect": [], "start_pos": 1717, "end_pos": 1717, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070256", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V1717", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184261035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184261035" }, { "id": "rs1184261035", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184261035#frequency_tab" }, { "id": "rs1184261035", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184261035" } ], "glycoeffect": [], "start_pos": 1718, "end_pos": 1718, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070253", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1718", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184261035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184261035" }, { "id": "rs1184261035", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184261035#frequency_tab" }, { "id": "rs1184261035", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184261035" } ], "glycoeffect": [], "start_pos": 1718, "end_pos": 1718, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070253", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1718", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1719, "end_pos": 1719, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070250", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V1719", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs200125936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200125936" }, { "id": "rs200125936", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200125936" }, { "id": "rs200125936", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200125936#frequency_tab" }, { "id": "rs200125936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200125936" } ], "glycoeffect": [], "start_pos": 1719, "end_pos": 1719, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070250", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1719", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs781212510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781212510" }, { "id": "rs781212510", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781212510" }, { "id": "rs781212510", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781212510#frequency_tab" }, { "id": "rs781212510", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781212510" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 171, "end_pos": 171, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097342", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781212510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781212510" }, { "id": "rs781212510", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781212510" }, { "id": "rs781212510", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781212510#frequency_tab" }, { "id": "rs781212510", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781212510" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 171, "end_pos": 171, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097342", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749256826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749256826" }, { "id": "rs749256826", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749256826" }, { "id": "rs749256826", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749256826#frequency_tab" }, { "id": "rs749256826", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749256826" } ], "glycoeffect": [], "start_pos": 1721, "end_pos": 1721, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070244", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1721", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1206962299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206962299" }, { "id": "rs1206962299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1206962299" } ], "glycoeffect": [], "start_pos": 1722, "end_pos": 1722, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070240", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1722", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs897784867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs897784867" }, { "id": "rs897784867", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs897784867#frequency_tab" }, { "id": "rs897784867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs897784867" } ], "glycoeffect": [], "start_pos": 1724, "end_pos": 1724, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070235", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1724", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1226299219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226299219" }, { "id": "rs1226299219", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226299219#frequency_tab" }, { "id": "rs1226299219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226299219" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1725, "end_pos": 1725, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070232", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1725", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1226299219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226299219" }, { "id": "rs1226299219", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226299219#frequency_tab" }, { "id": "rs1226299219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226299219" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1725, "end_pos": 1725, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070232", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1725", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1385050477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385050477" }, { "id": "rs1385050477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1385050477" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1727, "end_pos": 1727, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070226", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1727", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769624365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769624365" }, { "id": "rs769624365", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769624365" }, { "id": "rs769624365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769624365" } ], "glycoeffect": [], "start_pos": 1728, "end_pos": 1728, "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070222", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1728", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780774341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780774341" }, { "id": "rs780774341", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780774341" }, { "id": "rs780774341", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780774341#frequency_tab" }, { "id": "rs780774341", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780774341" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1729, "end_pos": 1729, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070219", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1729", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 172, "end_pos": 172, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097337", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D172", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1337242680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337242680" }, { "id": "rs1337242680", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1337242680#frequency_tab" }, { "id": "rs1337242680", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1337242680" } ], "glycoeffect": [], "start_pos": 172, "end_pos": 172, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097338", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757119520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757119520" }, { "id": "rs757119520", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757119520" }, { "id": "rs757119520", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757119520#frequency_tab" }, { "id": "rs757119520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757119520" } ], "glycoeffect": [], "start_pos": 172, "end_pos": 172, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097339", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1730, "end_pos": 1730, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070216", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1730", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778682049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778682049" }, { "id": "rs1778682049", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778682049" } ], "glycoeffect": [], "start_pos": 1730, "end_pos": 1730, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070217", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1730", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751110919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751110919" }, { "id": "rs751110919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751110919" }, { "id": "rs751110919", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751110919#frequency_tab" }, { "id": "rs751110919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751110919" } ], "glycoeffect": [], "start_pos": 1733, "end_pos": 1733, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070208", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1733", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751110919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751110919" }, { "id": "rs751110919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751110919" }, { "id": "rs751110919", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751110919#frequency_tab" }, { "id": "rs751110919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751110919" } ], "glycoeffect": [], "start_pos": 1733, "end_pos": 1733, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070208", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1733", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1733, "end_pos": 1733, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070207", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1733", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs374858262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374858262" }, { "id": "rs374858262", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374858262#frequency_tab" }, { "id": "rs374858262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374858262" }, { "id": "rs374858262", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374858262" } ], "glycoeffect": [], "start_pos": 1734, "end_pos": 1734, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070205", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1734", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1167819717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1167819717" }, { "id": "rs1167819717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1167819717" } ], "glycoeffect": [], "start_pos": 1734, "end_pos": 1734, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070204", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1734", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765827583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765827583" }, { "id": "rs765827583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765827583" }, { "id": "rs765827583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765827583#frequency_tab" }, { "id": "rs765827583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765827583" } ], "glycoeffect": [], "start_pos": 1735, "end_pos": 1735, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070202", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1735", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765827583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765827583" }, { "id": "rs765827583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765827583" }, { "id": "rs765827583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765827583#frequency_tab" }, { "id": "rs765827583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765827583" } ], "glycoeffect": [], "start_pos": 1735, "end_pos": 1735, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070202", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1735", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs573721058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573721058" }, { "id": "rs573721058", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573721058" }, { "id": "rs573721058", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs573721058#frequency_tab" }, { "id": "rs573721058", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs573721058" } ], "glycoeffect": [], "start_pos": 1735, "end_pos": 1735, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070201", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1735", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs573721058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573721058" }, { "id": "rs573721058", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573721058" }, { "id": "rs573721058", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs573721058#frequency_tab" }, { "id": "rs573721058", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs573721058" } ], "glycoeffect": [], "start_pos": 1735, "end_pos": 1735, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070201", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1735", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs573721058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573721058" }, { "id": "rs573721058", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573721058" }, { "id": "rs573721058", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs573721058#frequency_tab" }, { "id": "rs573721058", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs573721058" } ], "glycoeffect": [], "start_pos": 1735, "end_pos": 1735, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070201", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1735", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1320919235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320919235" }, { "id": "rs1320919235", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1320919235#frequency_tab" }, { "id": "rs1320919235", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320919235" } ], "glycoeffect": [], "start_pos": 1736, "end_pos": 1736, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070198", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1736", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1254604537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1254604537" }, { "id": "rs1254604537", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1254604537#frequency_tab" }, { "id": "rs1254604537", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1254604537" } ], "glycoeffect": [], "start_pos": 1738, "end_pos": 1738, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070193", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1738", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778679147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778679147" }, { "id": "rs1778679147", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778679147" }, { "id": "rs1778679147", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778679147" } ], "glycoeffect": [], "start_pos": 1738, "end_pos": 1738, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070192", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1738", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1179329735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179329735" }, { "id": "rs1179329735", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179329735" } ], "glycoeffect": [], "start_pos": 1739, "end_pos": 1739, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070190", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1739", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs61746206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61746206" }, { "id": "rs61746206", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61746206" }, { "id": "rs61746206", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61746206" }, { "id": "rs61746206", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61746206#frequency_tab" }, { "id": "rs61746206", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61746206" }, { "id": "rs61746206", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61746206" } ], "glycoeffect": [], "start_pos": 173, "end_pos": 173, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097336", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A173", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1740, "end_pos": 1740, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070187", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L1740", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs754235326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754235326" }, { "id": "rs754235326", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754235326" }, { "id": "rs754235326", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754235326" } ], "glycoeffect": [], "start_pos": 1741, "end_pos": 1741, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070184", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1741", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151916808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151916808" }, { "id": "rs2151916808", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151916808" } ], "glycoeffect": [], "start_pos": 1741, "end_pos": 1741, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070183", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1741", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1251012845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251012845" }, { "id": "rs1251012845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1251012845" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1742, "end_pos": 1742, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070180", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1742", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778678254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778678254" }, { "id": "rs1778678254", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778678254" } ], "glycoeffect": [], "start_pos": 1743, "end_pos": 1743, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070177", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1743", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs952267886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs952267886" }, { "id": "rs952267886", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs952267886#frequency_tab" } ], "glycoeffect": [], "start_pos": 1744, "end_pos": 1744, "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070174", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1744", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766599497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766599497" }, { "id": "rs766599497", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766599497" }, { "id": "rs766599497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766599497" } ], "glycoeffect": [], "start_pos": 1744, "end_pos": 1744, "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070175", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1744", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760983198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760983198" }, { "id": "rs760983198", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760983198" }, { "id": "rs760983198", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760983198" } ], "glycoeffect": [], "start_pos": 1746, "end_pos": 1746, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070168", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1746", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772182693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772182693" }, { "id": "rs772182693", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772182693" }, { "id": "rs772182693", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772182693#frequency_tab" }, { "id": "rs772182693", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772182693" } ], "glycoeffect": [], "start_pos": 1748, "end_pos": 1748, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070161", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1748", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1338642718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338642718" }, { "id": "rs1338642718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1338642718" }, { "id": "rs1338642718", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1338642718" } ], "glycoeffect": [], "start_pos": 1749, "end_pos": 1749, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070160", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1749", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs761855773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761855773" }, { "id": "rs761855773", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761855773" }, { "id": "rs761855773", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761855773#frequency_tab" }, { "id": "rs761855773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761855773" } ], "glycoeffect": [], "start_pos": 1749, "end_pos": 1749, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070159", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1749", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1749, "end_pos": 1749, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070160", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1749", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs13362755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13362755" }, { "id": "rs13362755", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs13362755#frequency_tab" } ], "glycoeffect": [], "start_pos": 174, "end_pos": 174, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097332", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1391790019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391790019" }, { "id": "rs1391790019", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1391790019#frequency_tab" }, { "id": "rs1391790019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391790019" } ], "glycoeffect": [], "start_pos": 1750, "end_pos": 1750, "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070156", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1750", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1391790019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391790019" }, { "id": "rs1391790019", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1391790019#frequency_tab" }, { "id": "rs1391790019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391790019" } ], "glycoeffect": [], "start_pos": 1750, "end_pos": 1750, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070156", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1750", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1235470292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235470292" }, { "id": "rs1235470292", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235470292" } ], "glycoeffect": [], "start_pos": 1750, "end_pos": 1750, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070157", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1750", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745720911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745720911" }, { "id": "rs745720911", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745720911" }, { "id": "rs745720911", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745720911#frequency_tab" }, { "id": "rs745720911", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745720911" } ], "glycoeffect": [], "start_pos": 1751, "end_pos": 1751, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070153", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1751", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs769711948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769711948" }, { "id": "rs769711948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769711948" }, { "id": "rs769711948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769711948" } ], "glycoeffect": [], "start_pos": 1751, "end_pos": 1751, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070154", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1751", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769711948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769711948" }, { "id": "rs769711948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769711948" }, { "id": "rs769711948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769711948" } ], "glycoeffect": [], "start_pos": 1751, "end_pos": 1751, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070154", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1751", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1427316270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427316270" }, { "id": "rs1427316270", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1427316270#frequency_tab" }, { "id": "rs1427316270", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427316270" } ], "glycoeffect": [], "start_pos": 1752, "end_pos": 1752, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070151", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1752", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1752, "end_pos": 1752, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070150", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1752", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1480200117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480200117" }, { "id": "rs1480200117", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1480200117#frequency_tab" }, { "id": "rs1480200117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480200117" } ], "glycoeffect": [], "start_pos": 1752, "end_pos": 1752, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070150", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1752", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778674549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778674549" }, { "id": "rs1778674549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778674549" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1754, "end_pos": 1754, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070145", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1754", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770508723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770508723" }, { "id": "rs770508723", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs770508723" } ], "glycoeffect": [], "start_pos": 1755, "end_pos": 1755, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070141", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1755", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377387902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377387902" }, { "id": "rs377387902", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377387902" }, { "id": "rs377387902", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377387902#frequency_tab" }, { "id": "rs377387902", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377387902" } ], "glycoeffect": [], "start_pos": 1756, "end_pos": 1756, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070137", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1756", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747658329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747658329" }, { "id": "rs747658329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747658329" }, { "id": "rs747658329", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747658329#frequency_tab" }, { "id": "rs747658329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747658329" } ], "glycoeffect": [], "start_pos": 1757, "end_pos": 1757, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070136", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1757", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs747658329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747658329" }, { "id": "rs747658329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747658329" }, { "id": "rs747658329", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747658329#frequency_tab" }, { "id": "rs747658329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747658329" } ], "glycoeffect": [], "start_pos": 1757, "end_pos": 1757, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32070136", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1757", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs1778672821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778672821" }, { "id": "rs1778672821", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778672821#frequency_tab" } ], "glycoeffect": [], "start_pos": 1757, "end_pos": 1757, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070135", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1757", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1279482319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1279482319" }, { "id": "rs1279482319", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1279482319#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1758, "end_pos": 1758, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070132", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1758", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778500698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778500698" }, { "id": "rs778500698", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778500698" }, { "id": "rs778500698", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778500698#frequency_tab" }, { "id": "rs778500698", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778500698" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1759, "end_pos": 1759, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32070129", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1759", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777704685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777704685" }, { "id": "rs777704685", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777704685" }, { "id": "rs777704685", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777704685" } ], "glycoeffect": [], "start_pos": 175, "end_pos": 175, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097328", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1481595803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1481595803" }, { "id": "rs1481595803", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1481595803" } ], "glycoeffect": [], "start_pos": 1761, "end_pos": 1761, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069859", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1761", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs547889326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547889326" }, { "id": "rs547889326", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547889326" }, { "id": "rs547889326", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs547889326#frequency_tab" }, { "id": "rs547889326", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547889326" }, { "id": "rs547889326", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547889326" } ], "glycoeffect": [], "start_pos": 1762, "end_pos": 1762, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069855", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1762", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs773066620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773066620" }, { "id": "rs773066620", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773066620" }, { "id": "rs773066620", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773066620#frequency_tab" }, { "id": "rs773066620", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773066620" } ], "glycoeffect": [], "start_pos": 1762, "end_pos": 1762, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069856", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1762", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs778592816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778592816" }, { "id": "rs778592816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778592816" }, { "id": "rs778592816", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778592816#frequency_tab" }, { "id": "rs778592816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778592816" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1763, "end_pos": 1763, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069852", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1763", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778592816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778592816" }, { "id": "rs778592816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778592816" }, { "id": "rs778592816", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778592816#frequency_tab" }, { "id": "rs778592816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778592816" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1763, "end_pos": 1763, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069852", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1763", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1263928022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263928022" }, { "id": "rs1263928022", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263928022" } ], "glycoeffect": [], "start_pos": 1764, "end_pos": 1764, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069850", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1764", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483586538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483586538" } ], "glycoeffect": [], "start_pos": 1764, "end_pos": 1764, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069849", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1764", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1040535591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1040535591" }, { "id": "rs1040535591", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1040535591" } ], "glycoeffect": [], "start_pos": 1765, "end_pos": 1765, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069846", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1765", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778653699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778653699" }, { "id": "rs1778653699", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778653699" }, { "id": "rs1778653699", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778653699" } ], "glycoeffect": [], "start_pos": 1765, "end_pos": 1765, "sequence_org": "M", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069847", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1765", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs754409715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754409715" }, { "id": "rs754409715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754409715" }, { "id": "rs754409715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754409715#frequency_tab" }, { "id": "rs754409715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754409715" } ], "glycoeffect": [], "start_pos": 1766, "end_pos": 1766, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069843", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1766", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1485504511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485504511" }, { "id": "rs1485504511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1485504511" } ], "glycoeffect": [], "start_pos": 1767, "end_pos": 1767, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069840", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1767", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1767, "end_pos": 1767, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069841", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1767", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483586454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483586454" } ], "glycoeffect": [], "start_pos": 1767, "end_pos": 1767, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069841", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1767", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1225137183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225137183" }, { "id": "rs1225137183", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225137183" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1768, "end_pos": 1768, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069837", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1768", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1263921951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263921951" }, { "id": "rs1263921951", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263921951" }, { "id": "rs1263921951", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1263921951" } ], "glycoeffect": [], "start_pos": 1769, "end_pos": 1769, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069834", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1769", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1778652170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778652170" }, { "id": "rs1778652170", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778652170" } ], "glycoeffect": [], "start_pos": 1769, "end_pos": 1769, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069835", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1769", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758179653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758179653" }, { "id": "rs758179653", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758179653" }, { "id": "rs758179653", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758179653" } ], "glycoeffect": [], "start_pos": 176, "end_pos": 176, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097327", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P176", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151916347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151916347" }, { "id": "rs2151916347", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151916347" } ], "glycoeffect": [], "start_pos": 1770, "end_pos": 1770, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069832", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1770", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749844478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749844478" }, { "id": "rs749844478", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749844478" }, { "id": "rs749844478", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749844478#frequency_tab" }, { "id": "rs749844478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749844478" } ], "glycoeffect": [], "start_pos": 1771, "end_pos": 1771, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069829", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1771", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs540179287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540179287" }, { "id": "rs540179287", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs540179287#frequency_tab" }, { "id": "rs540179287", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs540179287" }, { "id": "rs540179287", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs540179287" } ], "glycoeffect": [], "start_pos": 1772, "end_pos": 1772, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069826", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1772", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs979695955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs979695955" }, { "id": "rs979695955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs979695955" }, { "id": "rs979695955", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs979695955" } ], "glycoeffect": [], "start_pos": 1772, "end_pos": 1772, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069825", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1772", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1778651040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778651040" }, { "id": "rs1778651040", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778651040" } ], "glycoeffect": [], "start_pos": 1773, "end_pos": 1773, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069822", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1773", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1327754879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327754879" }, { "id": "rs1327754879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327754879" } ], "glycoeffect": [], "start_pos": 1774, "end_pos": 1774, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069819", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1774", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1327754879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327754879" }, { "id": "rs1327754879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327754879" } ], "glycoeffect": [], "start_pos": 1774, "end_pos": 1774, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069819", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1774", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780406194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780406194" }, { "id": "rs780406194", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780406194" }, { "id": "rs780406194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780406194" } ], "glycoeffect": [], "start_pos": 1775, "end_pos": 1775, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069817", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1775", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1319084528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319084528" }, { "id": "rs1319084528", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1319084528#frequency_tab" }, { "id": "rs1319084528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1319084528" }, { "id": "rs1319084528", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1319084528" } ], "glycoeffect": [], "start_pos": 1777, "end_pos": 1777, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069811", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1777", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs757479436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757479436" }, { "id": "rs757479436", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757479436" }, { "id": "rs757479436", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757479436#frequency_tab" }, { "id": "rs757479436", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757479436" } ], "glycoeffect": [], "start_pos": 1778, "end_pos": 1778, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069808", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1778", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2483585973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483585973" } ], "glycoeffect": [], "start_pos": 1779, "end_pos": 1779, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069804", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1779", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778649008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778649008" }, { "id": "rs1778649008", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778649008" } ], "glycoeffect": [], "start_pos": 1779, "end_pos": 1779, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069805", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1779", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1779, "end_pos": 1779, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069804", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G1779", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1216773226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216773226" }, { "id": "rs1216773226", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216773226" } ], "glycoeffect": [], "start_pos": 177, "end_pos": 177, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097323", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P177", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs369052118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369052118" }, { "id": "rs369052118", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369052118" }, { "id": "rs369052118", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369052118#frequency_tab" }, { "id": "rs369052118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369052118" } ], "glycoeffect": [], "start_pos": 177, "end_pos": 177, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097324", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P177", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1780, "end_pos": 1780, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069802", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1780", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1477159159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477159159" }, { "id": "rs1477159159", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477159159" }, { "id": "rs1477159159", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1477159159" } ], "glycoeffect": [], "start_pos": 1781, "end_pos": 1781, "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069799", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1781", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1781, "end_pos": 1781, "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069799", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1781", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs916588878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs916588878" }, { "id": "rs916588878", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs916588878" } ], "glycoeffect": [], "start_pos": 1782, "end_pos": 1782, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069795", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1782", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs991264887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs991264887" }, { "id": "rs991264887", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs991264887" } ], "glycoeffect": [], "start_pos": 1784, "end_pos": 1784, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069790", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1784", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151916274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151916274" }, { "id": "rs2151916274", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151916274" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1786, "end_pos": 1786, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069783", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1786", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1786, "end_pos": 1786, "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069784", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T1786", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1201290359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201290359" }, { "id": "rs1201290359", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201290359" } ], "glycoeffect": [], "start_pos": 1786, "end_pos": 1786, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069784", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1786", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs548921928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs548921928" }, { "id": "rs548921928", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs548921928" }, { "id": "rs548921928", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs548921928" }, { "id": "rs548921928", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs548921928#frequency_tab" }, { "id": "rs548921928", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs548921928" }, { "id": "rs548921928", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs548921928" } ], "glycoeffect": [], "start_pos": 1787, "end_pos": 1787, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069781", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1787", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs776678463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776678463" }, { "id": "rs776678463", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776678463" }, { "id": "rs776678463", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776678463#frequency_tab" }, { "id": "rs776678463", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776678463" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1788, "end_pos": 1788, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069778", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1788", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776678463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776678463" }, { "id": "rs776678463", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776678463" }, { "id": "rs776678463", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776678463#frequency_tab" }, { "id": "rs776678463", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776678463" }, { "id": "rs1778646314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778646314" }, { "id": "rs1778646314", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778646314#frequency_tab" } ], "glycoeffect": [], "start_pos": 1788, "end_pos": 1788, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069778", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1788", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778646780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778646780" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1788, "end_pos": 1788, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069778", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1788", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1461651536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461651536" }, { "id": "rs1461651536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1461651536" } ], "glycoeffect": [], "start_pos": 1789, "end_pos": 1789, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069773", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1789", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212840602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212840602" }, { "id": "rs1212840602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1212840602#frequency_tab" }, { "id": "rs1212840602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212840602" } ], "glycoeffect": [], "start_pos": 1790, "end_pos": 1790, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069771", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1790", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212840602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212840602" }, { "id": "rs1212840602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1212840602#frequency_tab" }, { "id": "rs1212840602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212840602" } ], "glycoeffect": [], "start_pos": 1790, "end_pos": 1790, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069771", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1790", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1791, "end_pos": 1791, "subjects_tested": "2053", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069768", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1791", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs760624007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760624007" }, { "id": "rs760624007", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760624007" }, { "id": "rs760624007", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760624007#frequency_tab" }, { "id": "rs760624007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760624007" }, { "id": "rs760624007", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760624007" } ], "glycoeffect": [], "start_pos": 1792, "end_pos": 1792, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069766", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1792", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1052268708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1052268708" }, { "id": "rs1052268708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1052268708" } ], "glycoeffect": [], "start_pos": 1793, "end_pos": 1793, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069762", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1793", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771949119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771949119" }, { "id": "rs771949119", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771949119" }, { "id": "rs771949119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771949119" } ], "glycoeffect": [], "start_pos": 1793, "end_pos": 1793, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069763", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1793", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778644177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778644177" }, { "id": "rs1778644177", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778644177" } ], "glycoeffect": [], "start_pos": 1794, "end_pos": 1794, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069759", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1794", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1795, "end_pos": 1795, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069756", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1795", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1455038844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1455038844" }, { "id": "rs1455038844", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1455038844" } ], "glycoeffect": [], "start_pos": 1796, "end_pos": 1796, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069754", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1796", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761593259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761593259" }, { "id": "rs761593259", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761593259" }, { "id": "rs761593259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761593259" } ], "glycoeffect": [], "start_pos": 1799, "end_pos": 1799, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069744", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1799", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1799, "end_pos": 1799, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069745", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1799", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 17, "end_pos": 17, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098150", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L17", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs780534506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780534506" }, { "id": "rs780534506", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780534506" }, { "id": "rs780534506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780534506" } ], "glycoeffect": [], "start_pos": 17, "end_pos": 17, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098150", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774119033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774119033" }, { "id": "rs774119033", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774119033" }, { "id": "rs774119033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774119033" } ], "glycoeffect": [], "start_pos": 1800, "end_pos": 1800, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069742", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1800", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1413064915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413064915" }, { "id": "rs1413064915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413064915" }, { "id": "rs1413064915", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1413064915" } ], "glycoeffect": [], "start_pos": 1801, "end_pos": 1801, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069739", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1801", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1805, "end_pos": 1805, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069726", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1805", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1168667037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168667037" }, { "id": "rs1168667037", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1168667037#frequency_tab" }, { "id": "rs1168667037", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168667037" } ], "glycoeffect": [], "start_pos": 1806, "end_pos": 1806, "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069723", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1806", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs184813324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184813324" }, { "id": "rs184813324", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs184813324" }, { "id": "rs184813324", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184813324" }, { "id": "rs184813324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs184813324#frequency_tab" }, { "id": "rs184813324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs184813324" } ], "glycoeffect": [], "start_pos": 1806, "end_pos": 1806, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069724", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "F1806", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1168667037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168667037" }, { "id": "rs1168667037", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1168667037#frequency_tab" }, { "id": "rs1168667037", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168667037" } ], "glycoeffect": [], "start_pos": 1806, "end_pos": 1806, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069723", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1806", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1807, "end_pos": 1807, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069721", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V1807", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1429231773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429231773" }, { "id": "rs1429231773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429231773" } ], "glycoeffect": [], "start_pos": 1807, "end_pos": 1807, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069721", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1807", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778639879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778639879" }, { "id": "rs1778639879", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778639879" } ], "glycoeffect": [], "start_pos": 1809, "end_pos": 1809, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069714", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1809", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 180, "end_pos": 180, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097315", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P180", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 180, "end_pos": 180, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097315", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P180", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1810, "end_pos": 1810, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069710", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y1810", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1341687841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341687841" }, { "id": "rs1341687841", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341687841" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1810, "end_pos": 1810, "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069711", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1810", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1810, "end_pos": 1810, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069712", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y1810", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1397576308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397576308" }, { "id": "rs1397576308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1397576308" }, { "id": "rs1397576308", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1397576308" } ], "glycoeffect": [], "start_pos": 1813, "end_pos": 1813, "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069701-32069702CC", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1813", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs181025235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs181025235" }, { "id": "rs181025235", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs181025235" }, { "id": "rs181025235", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs181025235" }, { "id": "rs181025235", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs181025235#frequency_tab" }, { "id": "rs181025235", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs181025235" }, { "id": "rs181025235", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs181025235" } ], "glycoeffect": [], "start_pos": 1814, "end_pos": 1814, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069698", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D1814", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs748731285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748731285" }, { "id": "rs748731285", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748731285" }, { "id": "rs748731285", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748731285#frequency_tab" }, { "id": "rs748731285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748731285" } ], "glycoeffect": [], "start_pos": 1814, "end_pos": 1814, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069700", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1814", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748727801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748727801" }, { "id": "rs748727801", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748727801" }, { "id": "rs748727801", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748727801#frequency_tab" }, { "id": "rs748727801", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748727801" }, { "id": "rs748727801", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748727801" } ], "glycoeffect": [], "start_pos": 1815, "end_pos": 1815, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069697", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1815", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1816, "end_pos": 1816, "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069694", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q1816", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs757576159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757576159" }, { "id": "rs757576159", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757576159" }, { "id": "rs757576159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757576159#frequency_tab" }, { "id": "rs757576159", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757576159" } ], "glycoeffect": [], "start_pos": 1817, "end_pos": 1817, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069691", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1817", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1818, "end_pos": 1818, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069688", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q1818", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780470216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780470216" }, { "id": "rs1780470216", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780470216" } ], "glycoeffect": [], "start_pos": 181, "end_pos": 181, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097311", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777834357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777834357" }, { "id": "rs777834357", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777834357" }, { "id": "rs777834357", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777834357#frequency_tab" }, { "id": "rs777834357", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777834357" } ], "glycoeffect": [], "start_pos": 1820, "end_pos": 1820, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069682", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1820", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs533134249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533134249" }, { "id": "rs533134249", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs533134249" }, { "id": "rs533134249", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533134249" }, { "id": "rs533134249", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs533134249#frequency_tab" }, { "id": "rs533134249", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs533134249" } ], "glycoeffect": [], "start_pos": 1822, "end_pos": 1822, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069676", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V1822", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs533134249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533134249" }, { "id": "rs533134249", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs533134249" }, { "id": "rs533134249", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533134249" }, { "id": "rs533134249", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs533134249#frequency_tab" }, { "id": "rs533134249", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs533134249" } ], "glycoeffect": [], "start_pos": 1822, "end_pos": 1822, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069676", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V1822", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs765304224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765304224" }, { "id": "rs765304224", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765304224" }, { "id": "rs765304224", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765304224" }, { "id": "rs765304224", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765304224" } ], "glycoeffect": [], "start_pos": 1823, "end_pos": 1823, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069673", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1823", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1270796381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270796381" }, { "id": "rs1270796381", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1270796381#frequency_tab" } ], "glycoeffect": [], "start_pos": 1823, "end_pos": 1823, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069672", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1823", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760712251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760712251" }, { "id": "rs760712251", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760712251" }, { "id": "rs760712251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760712251" } ], "glycoeffect": [], "start_pos": 1824, "end_pos": 1824, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069669", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1824", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750350412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750350412" }, { "id": "rs750350412", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750350412" }, { "id": "rs750350412", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750350412#frequency_tab" }, { "id": "rs750350412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750350412" } ], "glycoeffect": [], "start_pos": 1826, "end_pos": 1826, "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069664", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1826", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778633648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778633648" }, { "id": "rs1778633648", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778633648" } ], "glycoeffect": [], "start_pos": 1826, "end_pos": 1826, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069663", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1826", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1368880441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368880441" }, { "id": "rs1368880441", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1368880441" } ], "glycoeffect": [], "start_pos": 1827, "end_pos": 1827, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069661", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1827", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1221905399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221905399" }, { "id": "rs1221905399", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1221905399#frequency_tab" }, { "id": "rs1221905399", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1221905399" } ], "glycoeffect": [], "start_pos": 1828, "end_pos": 1828, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069658", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1828", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1352330086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1352330086" }, { "id": "rs1352330086", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1352330086" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 182, "end_pos": 182, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097309", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S182", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761681416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761681416" }, { "id": "rs761681416", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761681416" }, { "id": "rs761681416", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761681416#frequency_tab" }, { "id": "rs761681416", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761681416" }, { "id": "rs200519530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200519530" }, { "id": "rs200519530", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200519530" }, { "id": "rs200519530", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200519530" }, { "id": "rs200519530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200519530#frequency_tab" }, { "id": "rs200519530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200519530" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1830, "end_pos": 1830, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069650", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1830", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ] }, { "evidence": [ { "id": "rs188124424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188124424" }, { "id": "rs188124424", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188124424" }, { "id": "rs188124424", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188124424" }, { "id": "rs188124424", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188124424#frequency_tab" }, { "id": "rs188124424", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188124424" } ], "glycoeffect": [], "start_pos": 1831, "end_pos": 1831, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069649", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "V1831", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs188124424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188124424" }, { "id": "rs188124424", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188124424" }, { "id": "rs188124424", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188124424" }, { "id": "rs188124424", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188124424#frequency_tab" }, { "id": "rs188124424", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188124424" } ], "glycoeffect": [], "start_pos": 1831, "end_pos": 1831, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069649", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "V1831", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768187269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768187269" }, { "id": "rs768187269", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768187269" }, { "id": "rs768187269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768187269#frequency_tab" }, { "id": "rs768187269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768187269" }, { "id": "rs768187269", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768187269" } ], "glycoeffect": [], "start_pos": 1832, "end_pos": 1832, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069645", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1832", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1833, "end_pos": 1833, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069642", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G1833", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1833, "end_pos": 1833, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069643", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1833", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs774873249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774873249" }, { "id": "rs774873249", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774873249" } ], "glycoeffect": [], "start_pos": 1833, "end_pos": 1833, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069642", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1833", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746406257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746406257" }, { "id": "rs746406257", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746406257" }, { "id": "rs746406257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746406257" } ], "glycoeffect": [], "start_pos": 1835, "end_pos": 1835, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069635", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1835", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1040547511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1040547511" }, { "id": "rs1040547511", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1040547511" } ], "glycoeffect": [], "start_pos": 1836, "end_pos": 1836, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069633", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1836", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781641776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781641776" }, { "id": "rs781641776", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781641776" }, { "id": "rs781641776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781641776" } ], "glycoeffect": [], "start_pos": 1837, "end_pos": 1837, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069630", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1837", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1446875043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446875043" }, { "id": "rs1446875043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1446875043#frequency_tab" }, { "id": "rs1446875043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446875043" } ], "glycoeffect": [], "start_pos": 1837, "end_pos": 1837, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069631", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1837", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs781641776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781641776" }, { "id": "rs781641776", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781641776" }, { "id": "rs781641776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781641776" } ], "glycoeffect": [], "start_pos": 1837, "end_pos": 1837, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069630", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1837", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1289838910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289838910" }, { "id": "rs1289838910", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289838910" } ], "glycoeffect": [], "start_pos": 1838, "end_pos": 1838, "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069628", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1838", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs778134657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778134657" }, { "id": "rs778134657", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778134657" }, { "id": "rs778134657", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778134657" } ], "glycoeffect": [], "start_pos": 1839, "end_pos": 1839, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069623", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R1839", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs758564608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758564608" }, { "id": "rs758564608", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758564608" }, { "id": "rs758564608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758564608" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1840, "end_pos": 1840, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069621", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1840", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1841, "end_pos": 1841, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069617", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1841", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1280512925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280512925" }, { "id": "rs1280512925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280512925" } ], "glycoeffect": [], "start_pos": 1842, "end_pos": 1842, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069616", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1842", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1228110837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228110837" }, { "id": "rs1228110837", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1228110837#frequency_tab" }, { "id": "rs1228110837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228110837" } ], "glycoeffect": [], "start_pos": 1844, "end_pos": 1844, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069610", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L1844", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs902693068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902693068" }, { "id": "rs902693068", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs902693068" } ], "glycoeffect": [], "start_pos": 1844, "end_pos": 1844, "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069609", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1844", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483583230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483583230" } ], "glycoeffect": [], "start_pos": 1846, "end_pos": 1846, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069603", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1846", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755081622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755081622" }, { "id": "rs755081622", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755081622" } ], "glycoeffect": [], "start_pos": 1846, "end_pos": 1846, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069604", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1846", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750438118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750438118" }, { "id": "rs750438118", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750438118" }, { "id": "rs750438118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750438118" } ], "glycoeffect": [], "start_pos": 1848, "end_pos": 1848, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069597", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1848", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767552003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767552003" }, { "id": "rs767552003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767552003" }, { "id": "rs767552003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767552003" } ], "glycoeffect": [], "start_pos": 1849, "end_pos": 1849, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069594", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1849", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375853200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375853200" }, { "id": "rs375853200", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375853200" }, { "id": "rs375853200", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375853200#frequency_tab" }, { "id": "rs375853200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375853200" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 184, "end_pos": 184, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097302", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375853200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375853200" }, { "id": "rs375853200", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375853200" }, { "id": "rs375853200", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375853200#frequency_tab" }, { "id": "rs375853200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375853200" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 184, "end_pos": 184, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097302", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1850, "end_pos": 1850, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069591", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1850", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs201606500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201606500" }, { "id": "rs201606500", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201606500" }, { "id": "rs201606500", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201606500" }, { "id": "rs201606500", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201606500#frequency_tab" }, { "id": "rs201606500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201606500" } ], "glycoeffect": [], "start_pos": 1850, "end_pos": 1850, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069592", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1850", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201606500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201606500" }, { "id": "rs201606500", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201606500" }, { "id": "rs201606500", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201606500" }, { "id": "rs201606500", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201606500#frequency_tab" }, { "id": "rs201606500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201606500" }, { "id": "rs201606500", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201606500" } ], "glycoeffect": [], "start_pos": 1850, "end_pos": 1850, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069592", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1850", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs763887854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763887854" }, { "id": "rs763887854", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763887854" }, { "id": "rs763887854", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763887854#frequency_tab" }, { "id": "rs763887854", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763887854" }, { "id": "rs763887854", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763887854" } ], "glycoeffect": [], "start_pos": 1852, "end_pos": 1852, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069586", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1852", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs775167267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775167267" }, { "id": "rs775167267", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775167267" }, { "id": "rs775167267", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775167267#frequency_tab" }, { "id": "rs775167267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775167267" }, { "id": "rs775167267", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775167267" } ], "glycoeffect": [], "start_pos": 1852, "end_pos": 1852, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069585", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1852", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs775167267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775167267" }, { "id": "rs775167267", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775167267" }, { "id": "rs775167267", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775167267#frequency_tab" }, { "id": "rs775167267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775167267" } ], "glycoeffect": [], "start_pos": 1852, "end_pos": 1852, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069585", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1852", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs555715990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555715990" }, { "id": "rs555715990", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555715990" }, { "id": "rs555715990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555715990" }, { "id": "rs555715990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555715990" } ], "glycoeffect": [], "start_pos": 1853, "end_pos": 1853, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069583", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V1853", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs919518058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs919518058" }, { "id": "rs919518058", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs919518058#frequency_tab" } ], "glycoeffect": [], "start_pos": 1854, "end_pos": 1854, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069580", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1854", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1854, "end_pos": 1854, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069579", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1854", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs777178557", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777178557" }, { "id": "rs777178557", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777178557" }, { "id": "rs777178557", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777178557#frequency_tab" }, { "id": "rs777178557", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777178557" } ], "glycoeffect": [], "start_pos": 1855, "end_pos": 1855, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069577", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1855", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777178557", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777178557" }, { "id": "rs777178557", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777178557" }, { "id": "rs777178557", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777178557#frequency_tab" }, { "id": "rs777178557", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777178557" } ], "glycoeffect": [], "start_pos": 1855, "end_pos": 1855, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069577", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1855", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371723161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371723161" }, { "id": "rs371723161", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371723161" }, { "id": "rs371723161", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371723161#frequency_tab" }, { "id": "rs371723161", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371723161" } ], "glycoeffect": [], "start_pos": 1856, "end_pos": 1856, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069574", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1856", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs200454166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200454166" }, { "id": "rs200454166", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200454166" }, { "id": "rs200454166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200454166#frequency_tab" }, { "id": "rs200454166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200454166" }, { "id": "rs200454166", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200454166" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1857, "end_pos": 1857, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069570", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1857", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1208533939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208533939" }, { "id": "rs1208533939", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208533939" } ], "glycoeffect": [], "start_pos": 1858, "end_pos": 1858, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069568", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1858", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs772443384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772443384" }, { "id": "rs772443384", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772443384" }, { "id": "rs772443384", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772443384#frequency_tab" }, { "id": "rs772443384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772443384" }, { "id": "rs772443384", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772443384" } ], "glycoeffect": [], "start_pos": 1859, "end_pos": 1859, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069565", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1859", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1780468642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780468642" }, { "id": "rs1780468642", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780468642" } ], "glycoeffect": [], "start_pos": 185, "end_pos": 185, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097299", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G185", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780468813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780468813" }, { "id": "rs1780468813", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780468813#frequency_tab" } ], "glycoeffect": [], "start_pos": 185, "end_pos": 185, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097300", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G185", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778622078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778622078" }, { "id": "rs1778622078", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778622078" } ], "glycoeffect": [], "start_pos": 1860, "end_pos": 1860, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069561", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1860", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1860, "end_pos": 1860, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069561", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "A1860", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748363005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748363005" }, { "id": "rs748363005", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748363005" }, { "id": "rs748363005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748363005#frequency_tab" }, { "id": "rs748363005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748363005" } ], "glycoeffect": [], "start_pos": 1860, "end_pos": 1860, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069562", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1860", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755169568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755169568" }, { "id": "rs755169568", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755169568" }, { "id": "rs755169568", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755169568" } ], "glycoeffect": [], "start_pos": 1861, "end_pos": 1861, "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069559", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1861", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778621409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778621409" }, { "id": "rs1778621409", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778621409#frequency_tab" } ], "glycoeffect": [], "start_pos": 1862, "end_pos": 1862, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069556", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1862", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1465321532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465321532" }, { "id": "rs1465321532", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465321532" } ], "glycoeffect": [], "start_pos": 1863, "end_pos": 1863, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069136", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1863", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151915515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151915515" }, { "id": "rs2151915515", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151915515" } ], "glycoeffect": [], "start_pos": 1864, "end_pos": 1864, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069133", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1864", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748535695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748535695" }, { "id": "rs748535695", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748535695" }, { "id": "rs748535695", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748535695#frequency_tab" }, { "id": "rs748535695", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748535695" } ], "glycoeffect": [], "start_pos": 1864, "end_pos": 1864, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069134", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1864", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748535695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748535695" }, { "id": "rs748535695", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748535695" }, { "id": "rs748535695", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748535695#frequency_tab" }, { "id": "rs748535695", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748535695" }, { "id": "rs748535695", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748535695" } ], "glycoeffect": [], "start_pos": 1864, "end_pos": 1864, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069134", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1864", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1778597515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778597515" }, { "id": "rs1778597515", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778597515" } ], "glycoeffect": [], "start_pos": 1865, "end_pos": 1865, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069130", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1865", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1866, "end_pos": 1866, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069128", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1866", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1867, "end_pos": 1867, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069125", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1867", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769001435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769001435" }, { "id": "rs769001435", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769001435" }, { "id": "rs769001435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769001435" } ], "glycoeffect": [], "start_pos": 1867, "end_pos": 1867, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069125", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1867", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs756175299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756175299" }, { "id": "rs756175299", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756175299" }, { "id": "rs756175299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756175299" } ], "glycoeffect": [], "start_pos": 1869, "end_pos": 1869, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069118", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E1869", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1478239366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478239366" }, { "id": "rs1478239366", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478239366#frequency_tab" }, { "id": "rs1478239366", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478239366" }, { "id": "rs1478239366", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1478239366" } ], "glycoeffect": [], "start_pos": 1869, "end_pos": 1869, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069119", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1869", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs773636513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773636513" }, { "id": "rs773636513", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773636513" }, { "id": "rs773636513", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773636513#frequency_tab" }, { "id": "rs773636513", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773636513" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 186, "end_pos": 186, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097296", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S186", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582407703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582407703" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1870, "end_pos": 1870, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069115", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1870", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1871, "end_pos": 1871, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069113", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E1871", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1173100210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173100210" }, { "id": "rs1173100210", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1173100210#frequency_tab" } ], "glycoeffect": [], "start_pos": 1872, "end_pos": 1872, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069109", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1872", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs752531006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752531006" }, { "id": "rs752531006", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752531006" }, { "id": "rs752531006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752531006" } ], "glycoeffect": [], "start_pos": 1874, "end_pos": 1874, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069104", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1874", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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", "germline" ] }, { "evidence": [ { "id": "rs752531006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752531006" }, { "id": "rs752531006", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752531006" }, { "id": "rs752531006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752531006" } ], "glycoeffect": [], "start_pos": 1874, "end_pos": 1874, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069104", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1874", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1875, "end_pos": 1875, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069101", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P1875", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1404360124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404360124" }, { "id": "rs1404360124", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1404360124#frequency_tab" }, { "id": "rs1404360124", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1404360124" }, { "id": "rs1404360124", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1404360124" } ], "glycoeffect": [], "start_pos": 1875, "end_pos": 1875, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069100", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1875", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1404360124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404360124" }, { "id": "rs1404360124", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1404360124#frequency_tab" }, { "id": "rs1404360124", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1404360124" } ], "glycoeffect": [], "start_pos": 1875, "end_pos": 1875, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069100", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1875", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866569950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866569950" }, { "id": "rs866569950", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866569950" } ], "glycoeffect": [], "start_pos": 1875, "end_pos": 1875, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069101", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1875", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1274000966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274000966" }, { "id": "rs1274000966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274000966" } ], "glycoeffect": [], "start_pos": 1877, "end_pos": 1877, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069094", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1877", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1226184420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226184420" }, { "id": "rs1226184420", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226184420" } ], "glycoeffect": [], "start_pos": 1878, "end_pos": 1878, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069092", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1878", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1361535267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361535267" }, { "id": "rs1361535267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361535267" } ], "glycoeffect": [], "start_pos": 1878, "end_pos": 1878, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069091", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1878", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371406421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371406421" }, { "id": "rs371406421", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371406421" } ], "glycoeffect": [], "start_pos": 1879, "end_pos": 1879, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069089", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1879", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1376676057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376676057" }, { "id": "rs1376676057", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1376676057#frequency_tab" }, { "id": "rs1376676057", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1376676057" } ], "glycoeffect": [], "start_pos": 1879, "end_pos": 1879, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069088", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1879", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1388865083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388865083" }, { "id": "rs1388865083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1388865083#frequency_tab" }, { "id": "rs1388865083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388865083" } ], "glycoeffect": [], "start_pos": 187, "end_pos": 187, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097293", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1388865083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388865083" }, { "id": "rs1388865083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1388865083#frequency_tab" }, { "id": "rs1388865083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388865083" } ], "glycoeffect": [], "start_pos": 187, "end_pos": 187, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097293", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760212945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760212945" }, { "id": "rs760212945", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760212945" }, { "id": "rs760212945", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760212945#frequency_tab" }, { "id": "rs760212945", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760212945" } ], "glycoeffect": [], "start_pos": 1882, "end_pos": 1882, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069079", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1882", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1410053256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410053256" }, { "id": "rs1410053256", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410053256" } ], "glycoeffect": [], "start_pos": 1882, "end_pos": 1882, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069080", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1882", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs750953519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750953519" }, { "id": "rs750953519", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750953519" }, { "id": "rs750953519", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750953519" } ], "glycoeffect": [], "start_pos": 1883, "end_pos": 1883, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069075", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1883", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151915422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151915422" }, { "id": "rs2151915422", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151915422" } ], "glycoeffect": [], "start_pos": 1883, "end_pos": 1883, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069077", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1883", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765147072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765147072" }, { "id": "rs765147072", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765147072#frequency_tab" }, { "id": "rs765147072", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765147072" } ], "glycoeffect": [], "start_pos": 1884, "end_pos": 1884, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069074", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1884", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1218853332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218853332" }, { "id": "rs1218853332", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1218853332#frequency_tab" }, { "id": "rs1218853332", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218853332" } ], "glycoeffect": [], "start_pos": 1884, "end_pos": 1884, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069073", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1884", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778589928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778589928" }, { "id": "rs1778589928", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778589928" } ], "glycoeffect": [], "start_pos": 1885, "end_pos": 1885, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069070", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1885", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs774865768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774865768" }, { "id": "rs774865768", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774865768" }, { "id": "rs774865768", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774865768#frequency_tab" }, { "id": "rs774865768", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774865768" } ], "glycoeffect": [], "start_pos": 1885, "end_pos": 1885, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069071", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1885", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1886, "end_pos": 1886, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069068", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E1886", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1886, "end_pos": 1886, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069067", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E1886", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs557598140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557598140" }, { "id": "rs557598140", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs557598140#frequency_tab" }, { "id": "rs557598140", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557598140" } ], "glycoeffect": [], "start_pos": 1887, "end_pos": 1887, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069064", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1887", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763294732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763294732" }, { "id": "rs763294732", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763294732" }, { "id": "rs763294732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763294732" } ], "glycoeffect": [], "start_pos": 1887, "end_pos": 1887, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069065", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1887", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1484168515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484168515" }, { "id": "rs1484168515", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1484168515#frequency_tab" }, { "id": "rs1484168515", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1484168515" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1888, "end_pos": 1888, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069061", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1888", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs575571619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575571619" }, { "id": "rs575571619", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs575571619" }, { "id": "rs575571619", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575571619" }, { "id": "rs575571619", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs575571619#frequency_tab" }, { "id": "rs575571619", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs575571619" } ], "glycoeffect": [], "start_pos": 1889, "end_pos": 1889, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069058", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V1889", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371794070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371794070" }, { "id": "rs371794070", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371794070" }, { "id": "rs371794070", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371794070" } ], "glycoeffect": [], "start_pos": 188, "end_pos": 188, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097291", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P188", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1890, "end_pos": 1890, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069056", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1890", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs777636340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777636340" }, { "id": "rs777636340", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777636340" }, { "id": "rs777636340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777636340" } ], "glycoeffect": [], "start_pos": 1891, "end_pos": 1891, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069052", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1891", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778586802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778586802" }, { "id": "rs1778586802", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778586802" } ], "glycoeffect": [], "start_pos": 1892, "end_pos": 1892, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069049", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1892", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778587031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778587031" }, { "id": "rs1778587031", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778587031" } ], "glycoeffect": [], "start_pos": 1892, "end_pos": 1892, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069050", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1892", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs748031327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748031327" }, { "id": "rs748031327", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748031327" }, { "id": "rs748031327", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748031327#frequency_tab" }, { "id": "rs748031327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748031327" }, { "id": "rs748031327", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748031327" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1893, "end_pos": 1893, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069046", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1893", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs2151915361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151915361" }, { "id": "rs2151915361", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151915361" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1894, "end_pos": 1894, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069044", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1894", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778585799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778585799" }, { "id": "rs1778585799", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778585799" } ], "glycoeffect": [], "start_pos": 1895, "end_pos": 1895, "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069040", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1895", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754736520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754736520" }, { "id": "rs754736520", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754736520" }, { "id": "rs754736520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754736520" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1896, "end_pos": 1896, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069038", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1896", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1897, "end_pos": 1897, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069034", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L1897", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1778585082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778585082" }, { "id": "rs1778585082", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778585082#frequency_tab" } ], "glycoeffect": [], "start_pos": 1897, "end_pos": 1897, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069034", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1897", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs965704223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs965704223" }, { "id": "rs965704223", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs965704223" } ], "glycoeffect": [], "start_pos": 1898, "end_pos": 1898, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069030", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1898", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779671317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779671317" }, { "id": "rs779671317", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779671317" }, { "id": "rs779671317", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779671317#frequency_tab" }, { "id": "rs779671317", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779671317" } ], "glycoeffect": [], "start_pos": 1898, "end_pos": 1898, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069032", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1898", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778584370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778584370" }, { "id": "rs1778584370", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778584370" } ], "glycoeffect": [], "start_pos": 1899, "end_pos": 1899, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069029", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1899", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1899, "end_pos": 1899, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069029", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L1899", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs755649413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755649413" }, { "id": "rs755649413", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755649413" }, { "id": "rs755649413", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755649413#frequency_tab" }, { "id": "rs755649413", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755649413" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1900, "end_pos": 1900, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069025", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1900", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs563011335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563011335" }, { "id": "rs563011335", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563011335" }, { "id": "rs563011335", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563011335" }, { "id": "rs563011335", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563011335" } ], "glycoeffect": [], "start_pos": 1903, "end_pos": 1903, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069016", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V1903", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1903, "end_pos": 1903, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069017", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1903", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs17207923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207923" }, { "id": "rs17207923", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17207923" }, { "id": "rs17207923", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207923" }, { "id": "rs17207923", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs17207923#frequency_tab" }, { "id": "rs17207923", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17207923" }, { "id": "rs17207923", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs17207923" } ], "glycoeffect": [], "start_pos": 1905, "end_pos": 1905, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069011", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1905", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1906, "end_pos": 1906, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069007", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1906", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1906, "end_pos": 1906, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32069008", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1906", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1458470526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458470526" }, { "id": "rs1458470526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1458470526" } ], "glycoeffect": [], "start_pos": 1907, "end_pos": 1907, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069004", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1907", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1030656217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1030656217" }, { "id": "rs1030656217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1030656217#frequency_tab" } ], "glycoeffect": [], "start_pos": 1908, "end_pos": 1908, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32069001", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F1908", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1778582666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778582666" }, { "id": "rs1778582666", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778582666" } ], "glycoeffect": [], "start_pos": 1909, "end_pos": 1909, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068998", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1909", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs570041954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570041954" }, { "id": "rs570041954", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570041954" }, { "id": "rs570041954", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570041954" }, { "id": "rs570041954", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs570041954" } ], "glycoeffect": [], "start_pos": 190, "end_pos": 190, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097285", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D190", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1294685715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294685715" }, { "id": "rs1294685715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1294685715#frequency_tab" }, { "id": "rs1294685715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294685715" }, { "id": "rs1294685715", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1294685715" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1910, "end_pos": 1910, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068995", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1910", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs999223422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs999223422" }, { "id": "rs999223422", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs999223422" } ], "glycoeffect": [], "start_pos": 1912, "end_pos": 1912, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068988", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1912", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778581687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778581687" }, { "id": "rs1778581687", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778581687#frequency_tab" } ], "glycoeffect": [], "start_pos": 1912, "end_pos": 1912, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068989", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1912", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs764589468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764589468" }, { "id": "rs764589468", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764589468" }, { "id": "rs764589468", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764589468#frequency_tab" }, { "id": "rs764589468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764589468" }, { "id": "rs764589468", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764589468" } ], "glycoeffect": [], "start_pos": 1912, "end_pos": 1912, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068990", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1912", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs764589468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764589468" }, { "id": "rs764589468", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764589468" }, { "id": "rs764589468", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764589468#frequency_tab" }, { "id": "rs764589468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764589468" } ], "glycoeffect": [], "start_pos": 1912, "end_pos": 1912, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068990", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1912", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483577245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483577245" } ], "glycoeffect": [], "start_pos": 1914, "end_pos": 1914, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068982", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1914", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763386990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763386990" }, { "id": "rs763386990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763386990" }, { "id": "rs763386990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763386990" } ], "glycoeffect": [], "start_pos": 1914, "end_pos": 1914, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068983", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1914", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562828425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562828425" }, { "id": "rs1562828425", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562828425" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1915, "end_pos": 1915, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068981", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1915", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs17207916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207916" }, { "id": "rs17207916", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17207916" }, { "id": "rs17207916", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207916" }, { "id": "rs17207916", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs17207916#frequency_tab" }, { "id": "rs17207916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs17207916" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1916, "end_pos": 1916, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068978", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.00529827", "site_lbl": "T1916", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1916, "end_pos": 1916, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068977", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1916", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1022075289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1022075289" }, { "id": "rs1022075289", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1022075289" } ], "glycoeffect": [], "start_pos": 1917, "end_pos": 1917, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068974", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1917", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1917, "end_pos": 1917, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068975", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D1917", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1917, "end_pos": 1917, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068975", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1917", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs373151913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373151913" }, { "id": "rs373151913", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373151913" }, { "id": "rs373151913", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373151913#frequency_tab" }, { "id": "rs373151913", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373151913" } ], "glycoeffect": [], "start_pos": 1918, "end_pos": 1918, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068972", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1918", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776795346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776795346" }, { "id": "rs776795346", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776795346" }, { "id": "rs776795346", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776795346" } ], "glycoeffect": [], "start_pos": 1920, "end_pos": 1920, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068966", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1920", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1268142322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268142322" }, { "id": "rs1268142322", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268142322" } ], "glycoeffect": [], "start_pos": 1922, "end_pos": 1922, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068960", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1922", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1922, "end_pos": 1922, "subjects_tested": "1906", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068959", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L1922", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483576977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483576977" } ], "glycoeffect": [], "start_pos": 1924, "end_pos": 1924, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068954", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1924", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770877459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770877459" }, { "id": "rs770877459", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770877459" }, { "id": "rs770877459", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770877459#frequency_tab" }, { "id": "rs770877459", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770877459" } ], "glycoeffect": [], "start_pos": 1925, "end_pos": 1925, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068950", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1925", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770877459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770877459" }, { "id": "rs770877459", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770877459" }, { "id": "rs770877459", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770877459#frequency_tab" }, { "id": "rs770877459", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770877459" } ], "glycoeffect": [], "start_pos": 1925, "end_pos": 1925, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068950", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1925", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1487473394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487473394" }, { "id": "rs1487473394", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1487473394#frequency_tab" }, { "id": "rs1487473394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1487473394" }, { "id": "rs1487473394", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1487473394" } ], "glycoeffect": [], "start_pos": 1926, "end_pos": 1926, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068948", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1926", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs748123602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748123602" }, { "id": "rs748123602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748123602" }, { "id": "rs748123602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748123602#frequency_tab" }, { "id": "rs748123602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748123602" } ], "glycoeffect": [], "start_pos": 1926, "end_pos": 1926, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068947", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1926", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs748123602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748123602" }, { "id": "rs748123602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748123602" }, { "id": "rs748123602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748123602#frequency_tab" }, { "id": "rs748123602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748123602" } ], "glycoeffect": [], "start_pos": 1926, "end_pos": 1926, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068947", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1926", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1926, "end_pos": 1926, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068948", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1926", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs751320202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751320202" }, { "id": "rs751320202", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751320202" }, { "id": "rs751320202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751320202#frequency_tab" }, { "id": "rs751320202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751320202" }, { "id": "rs751320202", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751320202" } ], "glycoeffect": [], "start_pos": 1927, "end_pos": 1927, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068944", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I1927", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1385899806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385899806" }, { "id": "rs1385899806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1385899806#frequency_tab" } ], "glycoeffect": [], "start_pos": 1927, "end_pos": 1927, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068945", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "I1927", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1928, "end_pos": 1928, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068942", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G1928", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768500765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768500765" }, { "id": "rs768500765", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768500765" }, { "id": "rs768500765", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768500765" } ], "glycoeffect": [], "start_pos": 1928, "end_pos": 1928, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068941", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1928", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1928, "end_pos": 1928, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068941", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G1928", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs749081248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749081248" }, { "id": "rs749081248", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749081248" }, { "id": "rs749081248", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749081248" } ], "glycoeffect": [], "start_pos": 1929, "end_pos": 1929, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068938", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1929", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs937144519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs937144519" }, { "id": "rs937144519", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs937144519#frequency_tab" }, { "id": "rs937144519", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs937144519" } ], "glycoeffect": [], "start_pos": 192, "end_pos": 192, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097278", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376211204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376211204" }, { "id": "rs376211204", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376211204" }, { "id": "rs376211204", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376211204#frequency_tab" }, { "id": "rs376211204", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376211204" } ], "glycoeffect": [], "start_pos": 1930, "end_pos": 1930, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068935", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1930", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755808228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755808228" }, { "id": "rs755808228", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755808228" }, { "id": "rs755808228", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755808228#frequency_tab" }, { "id": "rs755808228", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755808228" } ], "glycoeffect": [], "start_pos": 1931, "end_pos": 1931, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068933", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1931", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs749992114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749992114" }, { "id": "rs749992114", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749992114" }, { "id": "rs749992114", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749992114#frequency_tab" }, { "id": "rs749992114", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749992114" }, { "id": "rs749992114", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749992114" } ], "glycoeffect": [], "start_pos": 1931, "end_pos": 1931, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068932", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1931", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs755808228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755808228" }, { "id": "rs755808228", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755808228" }, { "id": "rs755808228", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755808228#frequency_tab" }, { "id": "rs755808228", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755808228" }, { "id": "rs755808228", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755808228" } ], "glycoeffect": [], "start_pos": 1931, "end_pos": 1931, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068933", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1931", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1933, "end_pos": 1933, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068927", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1933", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs780783028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780783028" }, { "id": "rs780783028", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780783028" }, { "id": "rs780783028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780783028" } ], "glycoeffect": [], "start_pos": 1934, "end_pos": 1934, "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068924", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1934", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs780783028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780783028" }, { "id": "rs780783028", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780783028" }, { "id": "rs780783028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780783028" } ], "glycoeffect": [], "start_pos": 1934, "end_pos": 1934, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068924", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1934", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752157740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752157740" }, { "id": "rs752157740", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752157740" }, { "id": "rs752157740", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752157740" }, { "id": "rs752157740", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752157740" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1935, "end_pos": 1935, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068920", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1935", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs756792194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756792194" }, { "id": "rs756792194", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756792194" }, { "id": "rs756792194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756792194" }, { "id": "rs756792194", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs756792194" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1935, "end_pos": 1935, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068921", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T1935", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs756792194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756792194" }, { "id": "rs756792194", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756792194" }, { "id": "rs756792194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756792194" } ], "glycoeffect": [], "start_pos": 1935, "end_pos": 1935, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068921", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1935", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1936, "end_pos": 1936, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068918", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L1936", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs535547075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535547075" }, { "id": "rs535547075", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535547075" }, { "id": "rs535547075", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs535547075" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1937, "end_pos": 1937, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068914", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1937", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs535547075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535547075" }, { "id": "rs535547075", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535547075" }, { "id": "rs535547075", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs535547075" }, { "id": "rs535547075", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs535547075" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1937, "end_pos": 1937, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068914", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1937", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1937, "end_pos": 1937, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068915", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1937", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778574089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778574089" }, { "id": "rs1778574089", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778574089" } ], "glycoeffect": [], "start_pos": 1938, "end_pos": 1938, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068911", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1938", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1156876057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156876057" }, { "id": "rs1156876057", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1156876057" } ], "glycoeffect": [], "start_pos": 193, "end_pos": 193, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097274", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778573608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778573608" }, { "id": "rs1778573608", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778573608#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1941, "end_pos": 1941, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068902", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1941", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1942, "end_pos": 1942, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068898", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D1942", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1942, "end_pos": 1942, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068899", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D1942", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765461982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765461982" }, { "id": "rs765461982", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765461982" }, { "id": "rs765461982", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765461982#frequency_tab" }, { "id": "rs765461982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765461982" } ], "glycoeffect": [], "start_pos": 1942, "end_pos": 1942, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068900", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1942", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765461982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765461982" }, { "id": "rs765461982", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765461982" }, { "id": "rs765461982", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765461982#frequency_tab" }, { "id": "rs765461982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765461982" } ], "glycoeffect": [], "start_pos": 1942, "end_pos": 1942, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068900", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1942", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151915142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151915142" }, { "id": "rs2151915142", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151915142" } ], "glycoeffect": [], "start_pos": 1943, "end_pos": 1943, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068895", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1943", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201412413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201412413" }, { "id": "rs201412413", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201412413" }, { "id": "rs201412413", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201412413" }, { "id": "rs201412413", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201412413#frequency_tab" }, { "id": "rs201412413", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201412413" }, { "id": "rs201412413", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201412413" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1945, "end_pos": 1945, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068891", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y1945", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1205255541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1205255541" }, { "id": "rs1205255541", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1205255541" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1948, "end_pos": 1948, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068881", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1948", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1345295731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1345295731" }, { "id": "rs1345295731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1345295731" } ], "glycoeffect": [], "start_pos": 1949, "end_pos": 1949, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068878", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1949", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1455556670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1455556670" }, { "id": "rs1455556670", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1455556670" } ], "glycoeffect": [], "start_pos": 194, "end_pos": 194, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097273", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1054443915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1054443915" }, { "id": "rs1054443915", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1054443915#frequency_tab" } ], "glycoeffect": [], "start_pos": 194, "end_pos": 194, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097272", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778570990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778570990" }, { "id": "rs1778570990", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778570990#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1950, "end_pos": 1950, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068876", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1950", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1951, "end_pos": 1951, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068873", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1951", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs557517383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557517383" }, { "id": "rs557517383", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557517383" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1953, "end_pos": 1953, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068866", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S1953", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151915121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151915121" }, { "id": "rs2151915121", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151915121" }, { "id": "rs1737220191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1737220191" }, { "id": "rs1737220191", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1737220191#frequency_tab" }, { "id": "rs1737220191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1737220191" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1953, "end_pos": 1953, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068867", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1953", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1955, "end_pos": 1955, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068860", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G1955", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs760731362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760731362" }, { "id": "rs760731362", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760731362" }, { "id": "rs760731362", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760731362#frequency_tab" }, { "id": "rs760731362", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760731362" } ], "glycoeffect": [], "start_pos": 1957, "end_pos": 1957, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068854", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1957", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778570345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778570345" }, { "id": "rs1778570345", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778570345" } ], "glycoeffect": [], "start_pos": 1957, "end_pos": 1957, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068855", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1957", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1048476467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1048476467" }, { "id": "rs1048476467", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1048476467" } ], "glycoeffect": [], "start_pos": 1958, "end_pos": 1958, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068852", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1958", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778569374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778569374" }, { "id": "rs1778569374", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778569374#frequency_tab" } ], "glycoeffect": [], "start_pos": 1959, "end_pos": 1959, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068848", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1959", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151915093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151915093" } ], "glycoeffect": [], "start_pos": 1961, "end_pos": 1961, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068841_32068842", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1961", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1365020325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365020325" }, { "id": "rs1365020325", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1365020325#frequency_tab" }, { "id": "rs1365020325", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1365020325" } ], "glycoeffect": [], "start_pos": 1964, "end_pos": 1964, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068834", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1964", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1365020325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365020325" }, { "id": "rs1365020325", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1365020325#frequency_tab" }, { "id": "rs1365020325", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1365020325" } ], "glycoeffect": [], "start_pos": 1964, "end_pos": 1964, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068834", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1964", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1318978594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318978594" }, { "id": "rs1318978594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318978594" } ], "glycoeffect": [], "start_pos": 1965, "end_pos": 1965, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068831", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1965", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1965, "end_pos": 1965, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068831", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1965", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778568122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778568122" }, { "id": "rs1778568122", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778568122" } ], "glycoeffect": [], "start_pos": 1965, "end_pos": 1965, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068830", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1965", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768587123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768587123" }, { "id": "rs768587123", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768587123" }, { "id": "rs768587123", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768587123#frequency_tab" }, { "id": "rs768587123", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768587123" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1967, "end_pos": 1967, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068824", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1967", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151914968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151914968" }, { "id": "rs2151914968", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151914968" } ], "glycoeffect": [], "start_pos": 1968, "end_pos": 1968, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068707", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1968", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778567450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778567450" }, { "id": "rs1778567450", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778567450" } ], "glycoeffect": [], "start_pos": 1968, "end_pos": 1968, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068822", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1968", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778567450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778567450" }, { "id": "rs1778567450", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778567450" }, { "id": "rs1778567450", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778567450" } ], "glycoeffect": [], "start_pos": 1968, "end_pos": 1968, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068822", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1968", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1969, "end_pos": 1969, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068705", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1969", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768720917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768720917" }, { "id": "rs768720917", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768720917" }, { "id": "rs768720917", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768720917#frequency_tab" }, { "id": "rs768720917", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768720917" }, { "id": "rs768720917", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768720917" } ], "glycoeffect": [], "start_pos": 196, "end_pos": 196, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097266", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R196", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs768720917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768720917" }, { "id": "rs768720917", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768720917" }, { "id": "rs768720917", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768720917#frequency_tab" }, { "id": "rs768720917", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768720917" } ], "glycoeffect": [], "start_pos": 196, "end_pos": 196, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097266", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1388279498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388279498" }, { "id": "rs1388279498", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1388279498#frequency_tab" }, { "id": "rs1388279498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388279498" }, { "id": "rs1388279498", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1388279498" } ], "glycoeffect": [], "start_pos": 1971, "end_pos": 1971, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068699", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1971", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778558800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778558800" }, { "id": "rs1778558800", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778558800#frequency_tab" } ], "glycoeffect": [], "start_pos": 1972, "end_pos": 1972, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068696", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1972", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778558800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778558800" } ], "glycoeffect": [], "start_pos": 1972, "end_pos": 1972, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068696", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1972", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151914948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151914948" }, { "id": "rs2151914948", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151914948" } ], "glycoeffect": [], "start_pos": 1973, "end_pos": 1973, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068693", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1973", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1973, "end_pos": 1973, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068691", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1973", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs989236469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989236469" }, { "id": "rs989236469", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs989236469" } ], "glycoeffect": [], "start_pos": 1973, "end_pos": 1973, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068692", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K1973", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs775255623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775255623" }, { "id": "rs775255623", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775255623" }, { "id": "rs775255623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775255623" }, { "id": "rs775255623", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775255623" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1975, "end_pos": 1975, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068686", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1975", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1976, "end_pos": 1976, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068683", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E1976", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs760212295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760212295" }, { "id": "rs760212295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760212295#frequency_tab" }, { "id": "rs760212295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760212295" } ], "glycoeffect": [], "start_pos": 1976, "end_pos": 1976, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068683", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1976", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs989596075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989596075" }, { "id": "rs989596075", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs989596075#frequency_tab" }, { "id": "rs989596075", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs989596075" } ], "glycoeffect": [], "start_pos": 1977, "end_pos": 1977, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068681", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1977", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1978, "end_pos": 1978, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068677", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1978", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769676960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769676960" }, { "id": "rs769676960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769676960" }, { "id": "rs769676960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769676960#frequency_tab" }, { "id": "rs769676960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769676960" } ], "glycoeffect": [], "start_pos": 1978, "end_pos": 1978, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068678", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1978", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776411158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776411158" }, { "id": "rs776411158", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776411158" }, { "id": "rs776411158", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776411158#frequency_tab" }, { "id": "rs776411158", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776411158" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1979, "end_pos": 1979, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068674", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1979", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780465896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780465896" }, { "id": "rs1780465896", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780465896#frequency_tab" } ], "glycoeffect": [], "start_pos": 197, "end_pos": 197, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097264", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C197", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1263490769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263490769" }, { "id": "rs1263490769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263490769" } ], "glycoeffect": [], "start_pos": 197, "end_pos": 197, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097263", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C197", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1271561810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1271561810" }, { "id": "rs1271561810", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1271561810" } ], "glycoeffect": [], "start_pos": 1980, "end_pos": 1980, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068671", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1980", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1982, "end_pos": 1982, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068665", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P1982", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1982, "end_pos": 1982, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068666", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1982", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1983, "end_pos": 1983, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068662", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E1983", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1283973477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283973477" }, { "id": "rs1283973477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1283973477#frequency_tab" }, { "id": "rs1283973477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283973477" }, { "id": "rs1283973477", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1283973477" } ], "glycoeffect": [], "start_pos": 1983, "end_pos": 1983, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068663", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1983", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1283973477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283973477" }, { "id": "rs1283973477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1283973477#frequency_tab" }, { "id": "rs1283973477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283973477" } ], "glycoeffect": [], "start_pos": 1983, "end_pos": 1983, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068663", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1983", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748738261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748738261" }, { "id": "rs748738261", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748738261" }, { "id": "rs748738261", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748738261#frequency_tab" }, { "id": "rs748738261", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748738261" } ], "glycoeffect": [], "start_pos": 1984, "end_pos": 1984, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068659", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1984", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748738261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748738261" }, { "id": "rs748738261", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748738261" }, { "id": "rs748738261", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748738261#frequency_tab" }, { "id": "rs748738261", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748738261" } ], "glycoeffect": [], "start_pos": 1984, "end_pos": 1984, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068659", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1984", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs757950715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757950715" }, { "id": "rs757950715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757950715" }, { "id": "rs757950715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757950715" }, { "id": "rs757950715", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs757950715" } ], "glycoeffect": [], "start_pos": 1984, "end_pos": 1984, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068660", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1984", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs757950715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757950715" }, { "id": "rs757950715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757950715" }, { "id": "rs757950715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757950715" } ], "glycoeffect": [], "start_pos": 1984, "end_pos": 1984, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068660", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1984", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778554104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778554104" }, { "id": "rs1778554104", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778554104" } ], "glycoeffect": [], "start_pos": 1985, "end_pos": 1985, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068657", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P1985", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1409343988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409343988" }, { "id": "rs1409343988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1409343988" }, { "id": "rs1409343988", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1409343988" } ], "glycoeffect": [], "start_pos": 1985, "end_pos": 1985, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068656", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1985", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1409343988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409343988" }, { "id": "rs1409343988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1409343988" } ], "glycoeffect": [], "start_pos": 1985, "end_pos": 1985, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068656", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1985", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201365475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201365475" }, { "id": "rs201365475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201365475" } ], "glycoeffect": [], "start_pos": 1986, "end_pos": 1986, "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068654", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201365475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201365475" }, { "id": "rs201365475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201365475" } ], "glycoeffect": [], "start_pos": 1986, "end_pos": 1986, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068654", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778553103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778553103" }, { "id": "rs1778553103", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778553103" } ], "glycoeffect": [], "start_pos": 1988, "end_pos": 1988, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068648", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1988", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs371681556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371681556" }, { "id": "rs371681556", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371681556" }, { "id": "rs371681556", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371681556#frequency_tab" }, { "id": "rs371681556", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371681556" }, { "id": "rs371681556", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371681556" } ], "glycoeffect": [], "start_pos": 1989, "end_pos": 1989, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068645", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1989", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs754160588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754160588" }, { "id": "rs754160588", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754160588" }, { "id": "rs754160588", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754160588#frequency_tab" }, { "id": "rs754160588", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754160588" }, { "id": "rs754160588", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754160588" } ], "glycoeffect": [], "start_pos": 1989, "end_pos": 1989, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068644", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1989", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 198, "end_pos": 198, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097260", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V198", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483766013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483766013" } ], "glycoeffect": [], "start_pos": 198, "end_pos": 198, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097260", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1990, "end_pos": 1990, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068641", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L1990", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1991, "end_pos": 1991, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068638", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1991", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs756354346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756354346" }, { "id": "rs756354346", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756354346" }, { "id": "rs756354346", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756354346#frequency_tab" }, { "id": "rs756354346", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756354346" } ], "glycoeffect": [], "start_pos": 1992, "end_pos": 1992, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068636", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1992", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756354346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756354346" }, { "id": "rs756354346", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756354346" }, { "id": "rs756354346", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756354346#frequency_tab" }, { "id": "rs756354346", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756354346" } ], "glycoeffect": [], "start_pos": 1992, "end_pos": 1992, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068636", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1992", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750600772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750600772" }, { "id": "rs750600772", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750600772" }, { "id": "rs750600772", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750600772#frequency_tab" }, { "id": "rs750600772", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750600772" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1994, "end_pos": 1994, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068629", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1994", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1288560498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1288560498" }, { "id": "rs1288560498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1288560498" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1994, "end_pos": 1994, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068630", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1994", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368401231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368401231" }, { "id": "rs368401231", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368401231" }, { "id": "rs368401231", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368401231#frequency_tab" }, { "id": "rs368401231", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368401231" } ], "glycoeffect": [], "start_pos": 1995, "end_pos": 1995, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068627", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1995", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1306716579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306716579" }, { "id": "rs1306716579", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1306716579" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1996, "end_pos": 1996, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068624", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1996", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1221576521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221576521" }, { "id": "rs1221576521", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221576521" } ], "glycoeffect": [], "start_pos": 1997, "end_pos": 1997, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068620", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1997", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483573328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483573328" } ], "glycoeffect": [], "start_pos": 1997, "end_pos": 1997, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068621", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1997", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs765080777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765080777" }, { "id": "rs765080777", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765080777" }, { "id": "rs765080777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765080777" }, { "id": "rs765080777", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765080777" } ], "glycoeffect": [], "start_pos": 1998, "end_pos": 1998, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068618", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1998", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1193899321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193899321" }, { "id": "rs1193899321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193899321" } ], "glycoeffect": [], "start_pos": 199, "end_pos": 199, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097258", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs928751922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs928751922" }, { "id": "rs928751922", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs928751922#frequency_tab" }, { "id": "rs928751922", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs928751922" } ], "glycoeffect": [], "start_pos": 199, "end_pos": 199, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097257", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2000, "end_pos": 2000, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068611", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2000", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs776303206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776303206" }, { "id": "rs776303206", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776303206" }, { "id": "rs776303206", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776303206#frequency_tab" }, { "id": "rs776303206", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776303206" }, { "id": "rs776303206", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs776303206" } ], "glycoeffect": [], "start_pos": 2000, "end_pos": 2000, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068612", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2000", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs776303206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776303206" }, { "id": "rs776303206", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776303206" }, { "id": "rs776303206", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776303206#frequency_tab" }, { "id": "rs776303206", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776303206" } ], "glycoeffect": [], "start_pos": 2000, "end_pos": 2000, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068612", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2000", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200135262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200135262" }, { "id": "rs200135262", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200135262#frequency_tab" }, { "id": "rs200135262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200135262" } ], "glycoeffect": [], "start_pos": 2001, "end_pos": 2001, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068609", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2001", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770800507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770800507" }, { "id": "rs770800507", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770800507" }, { "id": "rs770800507", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770800507" } ], "glycoeffect": [], "start_pos": 2001, "end_pos": 2001, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068608", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2001", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483573049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483573049" } ], "glycoeffect": [], "start_pos": 2003, "end_pos": 2003, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068603", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2003", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1228014700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228014700" }, { "id": "rs1228014700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1228014700#frequency_tab" }, { "id": "rs1228014700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228014700" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2004, "end_pos": 2004, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068599", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2004", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151914789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151914789" }, { "id": "rs2151914789", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151914789" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2008, "end_pos": 2008, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068587", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2008", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747608940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747608940" }, { "id": "rs747608940", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747608940" }, { "id": "rs747608940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747608940" } ], "glycoeffect": [], "start_pos": 2009, "end_pos": 2009, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068585", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2009", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1487706318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487706318" }, { "id": "rs1487706318", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1487706318" } ], "glycoeffect": [], "start_pos": 200, "end_pos": 200, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097254", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs897925440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs897925440" }, { "id": "rs897925440", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs897925440#frequency_tab" }, { "id": "rs897925440", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs897925440" } ], "glycoeffect": [], "start_pos": 2010, "end_pos": 2010, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068581", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2010", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2011, "end_pos": 2011, "subjects_tested": "719", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068577", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2011", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1434254207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434254207" }, { "id": "rs1434254207", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434254207#frequency_tab" }, { "id": "rs1434254207", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434254207" }, { "id": "rs1434254207", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1434254207" } ], "glycoeffect": [], "start_pos": 2011, "end_pos": 2011, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068579", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2011", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1434254207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434254207" }, { "id": "rs1434254207", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434254207#frequency_tab" }, { "id": "rs1434254207", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434254207" } ], "glycoeffect": [], "start_pos": 2011, "end_pos": 2011, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068579", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2011", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1389080985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389080985" } ], "glycoeffect": [], "start_pos": 2012, "end_pos": 2012, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068575", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1389080985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389080985" }, { "id": "rs1389080985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389080985" } ], "glycoeffect": [], "start_pos": 2012, "end_pos": 2012, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068575", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749758651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749758651" }, { "id": "rs749758651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749758651" }, { "id": "rs749758651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749758651" } ], "glycoeffect": [], "start_pos": 2013, "end_pos": 2013, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068573", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2013", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2013, "end_pos": 2013, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068572", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q2013", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1467033412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467033412" }, { "id": "rs1467033412", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1467033412" } ], "glycoeffect": [], "start_pos": 2014, "end_pos": 2014, "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068570", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2014", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582405555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582405555" }, { "id": "rs1582405555", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582405555" } ], "glycoeffect": [], "start_pos": 2015, "end_pos": 2015, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068566", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2015", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2015, "end_pos": 2015, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068567", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D2015", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1426757098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1426757098" }, { "id": "rs1426757098", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1426757098" } ], "glycoeffect": [], "start_pos": 2015, "end_pos": 2015, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068567", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2015", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582405555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582405555" }, { "id": "rs1582405555", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582405555" } ], "glycoeffect": [], "start_pos": 2015, "end_pos": 2015, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068566", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2015", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780431751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780431751" }, { "id": "rs780431751", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780431751" }, { "id": "rs780431751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780431751" } ], "glycoeffect": [], "start_pos": 2017, "end_pos": 2017, "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068560", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2017", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750688283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750688283" }, { "id": "rs750688283", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750688283" }, { "id": "rs750688283", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750688283" } ], "glycoeffect": [], "start_pos": 2017, "end_pos": 2017, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068559", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2017", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780431751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780431751" }, { "id": "rs780431751", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780431751" }, { "id": "rs780431751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780431751" } ], "glycoeffect": [], "start_pos": 2017, "end_pos": 2017, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068560", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2017", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2018, "end_pos": 2018, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068558", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L2018", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1554322181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554322181" }, { "id": "rs1554322181", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1554322181" } ], "glycoeffect": [], "start_pos": 2019, "end_pos": 2019, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068555", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2019", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1283292493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283292493" }, { "id": "rs1283292493", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283292493" }, { "id": "rs1283292493", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1283292493" } ], "glycoeffect": [], "start_pos": 201, "end_pos": 201, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097252", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R201", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "rs367964663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367964663" }, { "id": "rs367964663", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367964663#frequency_tab" }, { "id": "rs367964663", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367964663" } ], "glycoeffect": [], "start_pos": 201, "end_pos": 201, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097251", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757421719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757421719" }, { "id": "rs757421719", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757421719" }, { "id": "rs757421719", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757421719" } ], "glycoeffect": [], "start_pos": 2020, "end_pos": 2020, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068550", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151914715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151914715" }, { "id": "rs2151914715", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151914715" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2021, "end_pos": 2021, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068547", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2021", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2022, "end_pos": 2022, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068545", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2022", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751593867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751593867" }, { "id": "rs751593867", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751593867" }, { "id": "rs751593867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751593867" } ], "glycoeffect": [], "start_pos": 2022, "end_pos": 2022, "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068545", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2022", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151914706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151914706" }, { "id": "rs2151914706", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151914706" } ], "glycoeffect": [], "start_pos": 2023, "end_pos": 2023, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068542", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2023", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2024, "end_pos": 2024, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068539", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G2024", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2025, "end_pos": 2025, "subjects_tested": "4484", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068537", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D2025", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs759414432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759414432" }, { "id": "rs759414432", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759414432" }, { "id": "rs759414432", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759414432#frequency_tab" }, { "id": "rs759414432", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759414432" }, { "id": "rs759414432", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759414432" } ], "glycoeffect": [], "start_pos": 2025, "end_pos": 2025, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068537", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2025", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs201397168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201397168" }, { "id": "rs201397168", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201397168" }, { "id": "rs201397168", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201397168#frequency_tab" }, { "id": "rs201397168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201397168" } ], "glycoeffect": [], "start_pos": 2025, "end_pos": 2025, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068536", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2025", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:14757", "recommended_name": { "id": "DOID:14757", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14757", "name": "Ehlers-Danlos syndrome hypermobility type", "description": "An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity." }, "synonyms": [ { "id": "DOID:14757", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14757", "name": "Ehlers-Danlos syndrome, type 3", "description": "" }, { "id": "DOID:14757", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14757", "name": "type III Ehlers-Danlos syndrome", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, hypermobility type", "description": "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "EDS III", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "EDSHMB", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome type 3", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome type 3 (formerly)", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, hypermobile type", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, hypermobility type", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, type 3", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, type III", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "HT-EDS", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "EDS3 (formerly)", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "hEDS", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "hypermobile EDS", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "hypermobile Ehlers-Danlos syndrome", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "14757", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14757" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2026, "end_pos": 2026, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068533", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2026", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs766327646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766327646" }, { "id": "rs766327646", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766327646" }, { "id": "rs766327646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766327646" }, { "id": "rs766327646", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766327646" } ], "glycoeffect": [], "start_pos": 2026, "end_pos": 2026, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068534", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2026", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs757676729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757676729" }, { "id": "rs757676729", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757676729" }, { "id": "rs757676729", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757676729#frequency_tab" }, { "id": "rs757676729", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757676729" } ], "glycoeffect": [], "start_pos": 202, "end_pos": 202, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097247", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304606320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304606320" }, { "id": "rs1304606320", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1304606320#frequency_tab" } ], "glycoeffect": [], "start_pos": 2030, "end_pos": 2030, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068521", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760534018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760534018" }, { "id": "rs760534018", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760534018" }, { "id": "rs760534018", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760534018#frequency_tab" }, { "id": "rs760534018", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760534018" } ], "glycoeffect": [], "start_pos": 2030, "end_pos": 2030, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068522", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760534018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760534018" }, { "id": "rs760534018", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760534018" }, { "id": "rs760534018", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760534018#frequency_tab" }, { "id": "rs760534018", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760534018" } ], "glycoeffect": [], "start_pos": 2030, "end_pos": 2030, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068522", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1437182181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437182181" }, { "id": "rs1437182181", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437182181#frequency_tab" }, { "id": "rs1437182181", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437182181" } ], "glycoeffect": [], "start_pos": 2034, "end_pos": 2034, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068510", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2034", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1437182181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437182181" }, { "id": "rs1437182181", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437182181#frequency_tab" }, { "id": "rs1437182181", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437182181" } ], "glycoeffect": [], "start_pos": 2034, "end_pos": 2034, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068510", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2034", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1157140394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157140394" }, { "id": "rs1157140394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157140394" } ], "glycoeffect": [], "start_pos": 2035, "end_pos": 2035, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068507", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2035", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1319659983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319659983" }, { "id": "rs1319659983", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1319659983" } ], "glycoeffect": [], "start_pos": 2036, "end_pos": 2036, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068504", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2036", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2037, "end_pos": 2037, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068499", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2037", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs771629431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771629431" }, { "id": "rs771629431", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771629431" }, { "id": "rs771629431", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771629431#frequency_tab" }, { "id": "rs771629431", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771629431" } ], "glycoeffect": [], "start_pos": 2037, "end_pos": 2037, "subjects_tested": "4484", "subjects_positive": "8", "frequency": "0.2", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068501", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2037", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs761473934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761473934" }, { "id": "rs761473934", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761473934" }, { "id": "rs761473934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761473934" } ], "glycoeffect": [], "start_pos": 2038, "end_pos": 2038, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068496", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2038", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2038, "end_pos": 2038, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068498", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2038", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1413458301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413458301" }, { "id": "rs1413458301", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413458301#frequency_tab" }, { "id": "rs1413458301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413458301" } ], "glycoeffect": [], "start_pos": 2039, "end_pos": 2039, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068494", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1413458301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413458301" }, { "id": "rs1413458301", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413458301#frequency_tab" }, { "id": "rs1413458301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413458301" } ], "glycoeffect": [], "start_pos": 2039, "end_pos": 2039, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068494", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778539292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778539292" }, { "id": "rs1778539292", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778539292#frequency_tab" }, { "id": "rs1778539292", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778539292" }, { "id": "rs1778539292", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778539292" } ], "glycoeffect": [], "start_pos": 2039, "end_pos": 2039, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068495", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2039", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs41270461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41270461" }, { "id": "rs41270461", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41270461" }, { "id": "rs41270461", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41270461" }, { "id": "rs41270461", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41270461#frequency_tab" }, { "id": "rs41270461", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41270461" } ], "glycoeffect": [], "start_pos": 203, "end_pos": 203, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097246", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs41270461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41270461" }, { "id": "rs41270461", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41270461" }, { "id": "rs41270461", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41270461" }, { "id": "rs41270461", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41270461#frequency_tab" }, { "id": "rs41270461", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41270461" }, { "id": "rs41270461", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41270461" } ], "glycoeffect": [], "start_pos": 203, "end_pos": 203, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097246", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V203", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1050442635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1050442635" }, { "id": "rs1050442635", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1050442635#frequency_tab" } ], "glycoeffect": [], "start_pos": 2042, "end_pos": 2042, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068485", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2042", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768176668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768176668" }, { "id": "rs768176668", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768176668" }, { "id": "rs768176668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768176668" } ], "glycoeffect": [], "start_pos": 2042, "end_pos": 2042, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068486", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2042", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778537834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778537834" }, { "id": "rs1778537834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778537834#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2043, "end_pos": 2043, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068482", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2043", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2044, "end_pos": 2044, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068480", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2044", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778537334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778537334" }, { "id": "rs1778537334", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778537334#frequency_tab" } ], "glycoeffect": [], "start_pos": 2044, "end_pos": 2044, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068479", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2044", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1188363855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188363855" }, { "id": "rs1188363855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1188363855" } ], "glycoeffect": [], "start_pos": 2045, "end_pos": 2045, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068477", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2045", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778536275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778536275" }, { "id": "rs1778536275", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778536275" } ], "glycoeffect": [], "start_pos": 2047, "end_pos": 2047, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068470", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2047", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1426356501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1426356501" }, { "id": "rs1426356501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1426356501#frequency_tab" }, { "id": "rs1426356501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1426356501" } ], "glycoeffect": [], "start_pos": 2047, "end_pos": 2047, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068471", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2047", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483571262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483571262" } ], "glycoeffect": [], "start_pos": 2048, "end_pos": 2048, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068467", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2048", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2048, "end_pos": 2048, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068468", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D2048", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1211073698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211073698" }, { "id": "rs1211073698", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211073698" } ], "glycoeffect": [], "start_pos": 2049, "end_pos": 2049, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068465", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2049", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781467737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781467737" }, { "id": "rs781467737", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781467737" }, { "id": "rs781467737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781467737#frequency_tab" }, { "id": "rs781467737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781467737" } ], "glycoeffect": [], "start_pos": 2049, "end_pos": 2049, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068464", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2049", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211073698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211073698" }, { "id": "rs1211073698", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211073698" } ], "glycoeffect": [], "start_pos": 2049, "end_pos": 2049, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068465", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2049", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764409379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764409379" }, { "id": "rs764409379", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764409379#frequency_tab" }, { "id": "rs764409379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764409379" } ], "glycoeffect": [], "start_pos": 204, "end_pos": 204, "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097241", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1329708843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329708843" }, { "id": "rs1329708843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329708843" } ], "glycoeffect": [], "start_pos": 204, "end_pos": 204, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097242", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1193385666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193385666" }, { "id": "rs1193385666", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1193385666#frequency_tab" }, { "id": "rs1193385666", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193385666" } ], "glycoeffect": [], "start_pos": 2050, "end_pos": 2050, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068462", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2050", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199772370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199772370" }, { "id": "rs199772370", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs199772370" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2051, "end_pos": 2051, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068458", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2051", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757431461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757431461" }, { "id": "rs757431461", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757431461" }, { "id": "rs757431461", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757431461#frequency_tab" }, { "id": "rs757431461", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757431461" } ], "glycoeffect": [], "start_pos": 2052, "end_pos": 2052, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068455", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2052", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2053, "end_pos": 2053, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068451", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M2053", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs766852843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766852843" }, { "id": "rs766852843", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs766852843" } ], "glycoeffect": [], "start_pos": 2054, "end_pos": 2054, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068449", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2055, "end_pos": 2055, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068447", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L2055", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs758483412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758483412" }, { "id": "rs758483412", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758483412" }, { "id": "rs758483412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758483412" } ], "glycoeffect": [], "start_pos": 2055, "end_pos": 2055, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068446", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2055", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768976514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768976514" }, { "id": "rs768976514", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768976514" }, { "id": "rs768976514", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768976514#frequency_tab" }, { "id": "rs768976514", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768976514" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2056, "end_pos": 2056, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068442", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756050937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756050937" }, { "id": "rs756050937", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756050937" }, { "id": "rs756050937", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756050937#frequency_tab" }, { "id": "rs756050937", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756050937" } ], "glycoeffect": [], "start_pos": 2057, "end_pos": 2057, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068441", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2057", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs756050937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756050937" }, { "id": "rs756050937", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756050937" }, { "id": "rs756050937", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756050937#frequency_tab" }, { "id": "rs756050937", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756050937" }, { "id": "rs756050937", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs756050937" } ], "glycoeffect": [], "start_pos": 2057, "end_pos": 2057, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068441", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2057", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1429782077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429782077" }, { "id": "rs1429782077", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429782077" } ], "glycoeffect": [], "start_pos": 2059, "end_pos": 2059, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068434", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2059", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs551447544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551447544" }, { "id": "rs551447544", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs551447544" }, { "id": "rs551447544", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551447544" }, { "id": "rs551447544", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs551447544#frequency_tab" }, { "id": "rs551447544", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs551447544" }, { "id": "rs551447544", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs551447544" } ], "glycoeffect": [], "start_pos": 2059, "end_pos": 2059, "sequence_org": "H", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068433", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2059", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs1309347082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309347082" }, { "id": "rs1309347082", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309347082" } ], "glycoeffect": [], "start_pos": 2059, "end_pos": 2059, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068435", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2059", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2060, "end_pos": 2060, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068431", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2060", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1193752770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193752770" }, { "id": "rs1193752770", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1193752770#frequency_tab" }, { "id": "rs1193752770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193752770" }, { "id": "rs1193752770", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1193752770" } ], "glycoeffect": [], "start_pos": 2060, "end_pos": 2060, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068432", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2060", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs375148651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375148651" }, { "id": "rs375148651", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375148651" }, { "id": "rs375148651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375148651" }, { "id": "rs375148651", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375148651" } ], "glycoeffect": [], "start_pos": 2063, "end_pos": 2063, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068423", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2063", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs747409043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747409043" }, { "id": "rs747409043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747409043" }, { "id": "rs747409043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747409043#frequency_tab" }, { "id": "rs747409043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747409043" } ], "glycoeffect": [], "start_pos": 2063, "end_pos": 2063, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068422", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2063", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs747409043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747409043" }, { "id": "rs747409043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747409043" }, { "id": "rs747409043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747409043#frequency_tab" }, { "id": "rs747409043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747409043" } ], "glycoeffect": [], "start_pos": 2063, "end_pos": 2063, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068422", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747409043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747409043" }, { "id": "rs747409043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747409043" }, { "id": "rs747409043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747409043#frequency_tab" }, { "id": "rs747409043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747409043" } ], "glycoeffect": [], "start_pos": 2063, "end_pos": 2063, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068422", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1182736987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182736987" }, { "id": "rs1182736987", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182736987" }, { "id": "rs1182736987", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1182736987" } ], "glycoeffect": [], "start_pos": 2064, "end_pos": 2064, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068418", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M2064", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1416403721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416403721" }, { "id": "rs1416403721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416403721" } ], "glycoeffect": [], "start_pos": 2064, "end_pos": 2064, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068420", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M2064", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs377551767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377551767" }, { "id": "rs377551767", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs377551767" } ], "glycoeffect": [], "start_pos": 2066, "end_pos": 2066, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068414", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2066", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763558215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763558215" }, { "id": "rs763558215", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763558215" }, { "id": "rs763558215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763558215" } ], "glycoeffect": [], "start_pos": 2067, "end_pos": 2067, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068411", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2067", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1483403327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483403327" }, { "id": "rs1483403327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483403327" } ], "glycoeffect": [], "start_pos": 2069, "end_pos": 2069, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068404", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V2069", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1207416596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1207416596" }, { "id": "rs1207416596", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1207416596" } ], "glycoeffect": [], "start_pos": 2069, "end_pos": 2069, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068405", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2069", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780463024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780463024" }, { "id": "rs1780463024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780463024" } ], "glycoeffect": [], "start_pos": 206, "end_pos": 206, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097237", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P206", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 206, "end_pos": 206, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097236", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P206", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780463024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780463024" }, { "id": "rs1780463024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780463024" } ], "glycoeffect": [], "start_pos": 206, "end_pos": 206, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097237", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P206", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374970674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374970674" }, { "id": "rs374970674", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374970674" }, { "id": "rs374970674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374970674" }, { "id": "rs374970674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374970674#frequency_tab" }, { "id": "rs374970674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374970674" } ], "glycoeffect": [], "start_pos": 2070, "end_pos": 2070, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068402", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2070", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs374970674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374970674" }, { "id": "rs374970674", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374970674" }, { "id": "rs374970674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374970674" }, { "id": "rs374970674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374970674#frequency_tab" }, { "id": "rs374970674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374970674" }, { "id": "rs374970674", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374970674" } ], "glycoeffect": [], "start_pos": 2070, "end_pos": 2070, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068402", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2070", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs374970674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374970674" }, { "id": "rs374970674", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374970674" }, { "id": "rs374970674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374970674" }, { "id": "rs374970674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374970674#frequency_tab" }, { "id": "rs374970674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374970674" } ], "glycoeffect": [], "start_pos": 2070, "end_pos": 2070, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068402", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2070", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2071, "end_pos": 2071, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068398", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2071", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs200319996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200319996" }, { "id": "rs200319996", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200319996" }, { "id": "rs200319996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200319996#frequency_tab" }, { "id": "rs200319996", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200319996" }, { "id": "rs200319996", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200319996" } ], "glycoeffect": [], "start_pos": 2071, "end_pos": 2071, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068399", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2071", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2151914481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151914481" }, { "id": "rs2151914481", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151914481" } ], "glycoeffect": [], "start_pos": 2071, "end_pos": 2071, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068398", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2071", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582404695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582404695" }, { "id": "rs1582404695", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582404695" } ], "glycoeffect": [], "start_pos": 2072, "end_pos": 2072, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068395", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2072", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777000609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777000609" } ], "glycoeffect": [], "start_pos": 2072, "end_pos": 2072, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068396", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2072", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777000609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777000609" }, { "id": "rs777000609", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777000609" }, { "id": "rs777000609", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777000609" } ], "glycoeffect": [], "start_pos": 2072, "end_pos": 2072, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068396", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2072", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2073, "end_pos": 2073, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32068393", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T2073", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1215495669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215495669" }, { "id": "rs1215495669", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215495669" } ], "glycoeffect": [], "start_pos": 2074, "end_pos": 2074, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32068390", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2074", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483565856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483565856" } ], "glycoeffect": [], "start_pos": 2075, "end_pos": 2075, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067982", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2075", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1161733661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161733661" }, { "id": "rs1161733661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1161733661" } ], "glycoeffect": [], "start_pos": 2077, "end_pos": 2077, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067975", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2077", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2077, "end_pos": 2077, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067976", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2077", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2078, "end_pos": 2078, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067973", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2078", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778495069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778495069" }, { "id": "rs1778495069", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778495069#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2079, "end_pos": 2079, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067969", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2079", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 207, "end_pos": 207, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097233", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G207", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs139154852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139154852" }, { "id": "rs139154852", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139154852" }, { "id": "rs139154852", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139154852" }, { "id": "rs139154852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139154852#frequency_tab" }, { "id": "rs139154852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139154852" } ], "glycoeffect": [], "start_pos": 207, "end_pos": 207, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097234", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1363390516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363390516" }, { "id": "rs1363390516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1363390516#frequency_tab" }, { "id": "rs1363390516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363390516" } ], "glycoeffect": [], "start_pos": 2080, "end_pos": 2080, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067966", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2080", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1363390516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363390516" }, { "id": "rs1363390516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1363390516#frequency_tab" }, { "id": "rs1363390516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363390516" } ], "glycoeffect": [], "start_pos": 2080, "end_pos": 2080, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067966", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2080", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483565594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483565594" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2081, "end_pos": 2081, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067964", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2081", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2081, "end_pos": 2081, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067963", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2081", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1179788592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179788592" }, { "id": "rs1179788592", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179788592" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2081, "end_pos": 2081, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067963", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2081", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2081, "end_pos": 2081, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067962", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S2081", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs777165418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777165418" }, { "id": "rs777165418", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777165418" }, { "id": "rs777165418", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777165418#frequency_tab" }, { "id": "rs777165418", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777165418" } ], "glycoeffect": [], "start_pos": 2084, "end_pos": 2084, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067953", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2084", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2084, "end_pos": 2084, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067955", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2084", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1582403504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582403504" }, { "id": "rs1582403504", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582403504" } ], "glycoeffect": [], "start_pos": 2085, "end_pos": 2085, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067951", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2085", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771259260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771259260" }, { "id": "rs771259260", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771259260" }, { "id": "rs771259260", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771259260#frequency_tab" }, { "id": "rs771259260", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771259260" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2086, "end_pos": 2086, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067947", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2086", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582403461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582403461" }, { "id": "rs1582403461", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1582403461#frequency_tab" }, { "id": "rs1582403461", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1582403461" } ], "glycoeffect": [], "start_pos": 2087, "end_pos": 2087, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067944", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2087", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761097706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761097706" }, { "id": "rs761097706", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761097706" }, { "id": "rs761097706", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761097706" } ], "glycoeffect": [], "start_pos": 2087, "end_pos": 2087, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067945", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2087", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2089, "end_pos": 2089, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067939", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2089", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs773384119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773384119" }, { "id": "rs773384119", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773384119" }, { "id": "rs773384119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773384119" } ], "glycoeffect": [], "start_pos": 2089, "end_pos": 2089, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067940", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2089", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2089, "end_pos": 2089, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067939", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2089", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs201997500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201997500" }, { "id": "rs201997500", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201997500" }, { "id": "rs201997500", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201997500#frequency_tab" }, { "id": "rs201997500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201997500" } ], "glycoeffect": [], "start_pos": 2090, "end_pos": 2090, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067936", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2090", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1328070961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328070961" }, { "id": "rs1328070961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328070961" } ], "glycoeffect": [], "start_pos": 2091, "end_pos": 2091, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067933", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2091", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1328070961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328070961" }, { "id": "rs1328070961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328070961" } ], "glycoeffect": [], "start_pos": 2091, "end_pos": 2091, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067933", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2091", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2091, "end_pos": 2091, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067934", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2091", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778490581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778490581" }, { "id": "rs1778490581", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778490581" } ], "glycoeffect": [], "start_pos": 2092, "end_pos": 2092, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067931", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2092", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2092, "end_pos": 2092, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067930", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2092", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2092, "end_pos": 2092, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067931", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2092", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768829550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768829550" }, { "id": "rs768829550", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768829550" }, { "id": "rs768829550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768829550#frequency_tab" }, { "id": "rs768829550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768829550" } ], "glycoeffect": [], "start_pos": 2093, "end_pos": 2093, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067928", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2093", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768829550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768829550" }, { "id": "rs768829550", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768829550" }, { "id": "rs768829550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768829550#frequency_tab" }, { "id": "rs768829550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768829550" }, { "id": "rs768829550", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768829550" } ], "glycoeffect": [], "start_pos": 2093, "end_pos": 2093, "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067928", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2093", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1778489677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778489677" }, { "id": "rs1778489677", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778489677" } ], "glycoeffect": [], "start_pos": 2094, "end_pos": 2094, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067925", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2094", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483564791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483564791" } ], "glycoeffect": [], "start_pos": 2095, "end_pos": 2095, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067920", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2095", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs534135812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534135812" }, { "id": "rs534135812", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534135812" }, { "id": "rs534135812", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534135812" }, { "id": "rs534135812", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs534135812#frequency_tab" }, { "id": "rs534135812", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534135812" }, { "id": "rs534135812", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534135812" } ], "glycoeffect": [], "start_pos": 2096, "end_pos": 2096, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067918", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2096", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs534135812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534135812" }, { "id": "rs534135812", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534135812" }, { "id": "rs534135812", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534135812" }, { "id": "rs534135812", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs534135812#frequency_tab" }, { "id": "rs534135812", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534135812" } ], "glycoeffect": [], "start_pos": 2096, "end_pos": 2096, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067918", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2096", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2096, "end_pos": 2096, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067919", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2096", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1173732835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173732835" }, { "id": "rs1173732835", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1173732835#frequency_tab" }, { "id": "rs1173732835", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173732835" } ], "glycoeffect": [], "start_pos": 2098, "end_pos": 2098, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067912", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2098", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2098, "end_pos": 2098, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067912", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L2098", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs777371028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777371028" } ], "glycoeffect": [], "start_pos": 2098, "end_pos": 2098, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067913", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2098", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1192421600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192421600" }, { "id": "rs1192421600", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1192421600#frequency_tab" }, { "id": "rs1192421600", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1192421600" }, { "id": "rs1192421600", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1192421600" } ], "glycoeffect": [], "start_pos": 2099, "end_pos": 2099, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067909", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2099", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2099, "end_pos": 2099, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067909", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2099", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1340073903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1340073903" }, { "id": "rs1340073903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1340073903" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 209, "end_pos": 209, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097227", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 20, "end_pos": 20, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098140", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T20", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2151913896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151913896" }, { "id": "rs2151913896", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151913896" } ], "glycoeffect": [], "start_pos": 2100, "end_pos": 2100, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067907", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2100, "end_pos": 2100, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067907", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2100", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs764867655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764867655" } ], "glycoeffect": [], "start_pos": 2100, "end_pos": 2100, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067912", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2100", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs766914938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766914938" }, { "id": "rs766914938", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766914938" }, { "id": "rs766914938", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766914938" } ], "glycoeffect": [], "start_pos": 2101, "end_pos": 2101, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067904", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1378276570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378276570" }, { "id": "rs1378276570", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378276570" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2102, "end_pos": 2102, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067901", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1173015949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173015949" }, { "id": "rs1173015949", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173015949" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2102, "end_pos": 2102, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067900", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2103, "end_pos": 2103, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067898", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2103", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs539429452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539429452" }, { "id": "rs539429452", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs539429452" }, { "id": "rs539429452", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539429452" }, { "id": "rs539429452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs539429452#frequency_tab" }, { "id": "rs539429452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539429452" } ], "glycoeffect": [], "start_pos": 2105, "end_pos": 2105, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067891", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2105, "end_pos": 2105, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067891", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2105", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1554321787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554321787" }, { "id": "rs1554321787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1554321787#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2107, "end_pos": 2107, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067885", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2107", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1554321787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554321787" }, { "id": "rs1554321787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1554321787#frequency_tab" }, { "id": "rs1554321787", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1554321787" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2107, "end_pos": 2107, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067885", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2107", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1259291379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259291379" }, { "id": "rs1259291379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1259291379" } ], "glycoeffect": [], "start_pos": 2108, "end_pos": 2108, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067882", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774696062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774696062" }, { "id": "rs774696062", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774696062" }, { "id": "rs774696062", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774696062#frequency_tab" }, { "id": "rs774696062", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774696062" } ], "glycoeffect": [], "start_pos": 2108, "end_pos": 2108, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067883", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1296424704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1296424704" }, { "id": "rs1296424704", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1296424704" } ], "glycoeffect": [], "start_pos": 210, "end_pos": 210, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097225", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768919542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768919542" }, { "id": "rs768919542", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768919542" }, { "id": "rs768919542", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768919542#frequency_tab" }, { "id": "rs768919542", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768919542" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2110, "end_pos": 2110, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067876", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778481001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778481001" }, { "id": "rs1778481001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778481001#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2114, "end_pos": 2114, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067864", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2114", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2115, "end_pos": 2115, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067860", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W2115", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs779928193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779928193" }, { "id": "rs779928193", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779928193" }, { "id": "rs779928193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779928193" }, { "id": "rs779928193", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779928193" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2116, "end_pos": 2116, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067859", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T2116", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1347182499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347182499" }, { "id": "rs1347182499", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1347182499#frequency_tab" }, { "id": "rs1347182499", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1347182499" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2116, "end_pos": 2116, "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067858", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2116", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs779928193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779928193" }, { "id": "rs779928193", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779928193" }, { "id": "rs779928193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779928193" } ], "glycoeffect": [], "start_pos": 2116, "end_pos": 2116, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067859", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs746870898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746870898" }, { "id": "rs746870898", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746870898" }, { "id": "rs746870898", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746870898#frequency_tab" }, { "id": "rs746870898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746870898" } ], "glycoeffect": [], "start_pos": 2117, "end_pos": 2117, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067856", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2117", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs754439905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754439905" } ], "glycoeffect": [], "start_pos": 2117, "end_pos": 2117, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067855_32067858", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2117", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1562825247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562825247" }, { "id": "rs1562825247", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562825247" } ], "glycoeffect": [], "start_pos": 2118, "end_pos": 2118, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067852", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2118, "end_pos": 2118, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067853", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2118", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs559844112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559844112" }, { "id": "rs559844112", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559844112" }, { "id": "rs559844112", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559844112" }, { "id": "rs559844112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs559844112#frequency_tab" }, { "id": "rs559844112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs559844112" } ], "glycoeffect": [], "start_pos": 211, "end_pos": 211, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097222", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "P211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1171920612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171920612" }, { "id": "rs1171920612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171920612" } ], "glycoeffect": [], "start_pos": 211, "end_pos": 211, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097221", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1171920612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171920612" }, { "id": "rs1171920612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171920612" } ], "glycoeffect": [], "start_pos": 211, "end_pos": 211, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097221", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs559844112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559844112" }, { "id": "rs559844112", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559844112" }, { "id": "rs559844112", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559844112" }, { "id": "rs559844112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs559844112#frequency_tab" }, { "id": "rs559844112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs559844112" } ], "glycoeffect": [], "start_pos": 211, "end_pos": 211, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097222", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "P211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2120, "end_pos": 2120, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067847", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2120", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs758158276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758158276" }, { "id": "rs758158276", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758158276" }, { "id": "rs758158276", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758158276#frequency_tab" }, { "id": "rs758158276", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758158276" } ], "glycoeffect": [], "start_pos": 2120, "end_pos": 2120, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067846", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs777574450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777574450" }, { "id": "rs777574450", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777574450" }, { "id": "rs777574450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777574450#frequency_tab" }, { "id": "rs777574450", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777574450" }, { "id": "rs777574450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777574450" } ], "glycoeffect": [], "start_pos": 2120, "end_pos": 2120, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067847", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2120", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs551088850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551088850" }, { "id": "rs551088850", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs551088850" }, { "id": "rs551088850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551088850" }, { "id": "rs551088850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs551088850#frequency_tab" }, { "id": "rs551088850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs551088850" } ], "glycoeffect": [], "start_pos": 2121, "end_pos": 2121, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067844", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs778533848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778533848" }, { "id": "rs778533848", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778533848" }, { "id": "rs778533848", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778533848#frequency_tab" }, { "id": "rs778533848", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778533848" }, { "id": "rs778533848", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs778533848" } ], "glycoeffect": [], "start_pos": 2121, "end_pos": 2121, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067843", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2121", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs753403637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753403637" }, { "id": "rs753403637", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753403637" }, { "id": "rs753403637", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753403637#frequency_tab" }, { "id": "rs753403637", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753403637" } ], "glycoeffect": [], "start_pos": 2122, "end_pos": 2122, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067839", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201764050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201764050" }, { "id": "rs201764050", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201764050" }, { "id": "rs201764050", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201764050#frequency_tab" }, { "id": "rs201764050", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201764050" } ], "glycoeffect": [], "start_pos": 2123, "end_pos": 2123, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067838", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2123", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201764050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201764050" }, { "id": "rs201764050", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201764050" }, { "id": "rs201764050", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201764050#frequency_tab" }, { "id": "rs201764050", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201764050" }, { "id": "rs201764050", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201764050" } ], "glycoeffect": [], "start_pos": 2123, "end_pos": 2123, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067838", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2123", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2483563483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483563483" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2124, "end_pos": 2124, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067834", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1418429396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418429396" }, { "id": "rs1418429396", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1418429396#frequency_tab" }, { "id": "rs1418429396", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1418429396" } ], "glycoeffect": [], "start_pos": 2124, "end_pos": 2124, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067835", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1391989387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391989387" }, { "id": "rs1391989387", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391989387" } ], "glycoeffect": [], "start_pos": 2125, "end_pos": 2125, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067832", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2125", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778477217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778477217" }, { "id": "rs1778477217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778477217#frequency_tab" } ], "glycoeffect": [], "start_pos": 2126, "end_pos": 2126, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067828", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1371123071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371123071" }, { "id": "rs1371123071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371123071" } ], "glycoeffect": [], "start_pos": 2127, "end_pos": 2127, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067825", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs9469081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9469081" }, { "id": "rs9469081", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9469081" }, { "id": "rs9469081", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9469081" }, { "id": "rs9469081", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9469081#frequency_tab" }, { "id": "rs9469081", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9469081" }, { "id": "rs9469081", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9469081" } ], "glycoeffect": [], "start_pos": 2127, "end_pos": 2127, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067826", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2127", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "rs1464394117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464394117" }, { "id": "rs1464394117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464394117" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 212, "end_pos": 212, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097218", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762259752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762259752" }, { "id": "rs762259752", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762259752" }, { "id": "rs762259752", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762259752#frequency_tab" }, { "id": "rs762259752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762259752" } ], "glycoeffect": [], "start_pos": 2130, "end_pos": 2130, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067817", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2130, "end_pos": 2130, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067815", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K2130", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs1388285476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388285476" }, { "id": "rs1388285476", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1388285476#frequency_tab" } ], "glycoeffect": [], "start_pos": 2131, "end_pos": 2131, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067814", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774775908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774775908" }, { "id": "rs774775908", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774775908" }, { "id": "rs774775908", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774775908#frequency_tab" }, { "id": "rs774775908", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774775908" } ], "glycoeffect": [], "start_pos": 2132, "end_pos": 2132, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067810", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774775908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774775908" }, { "id": "rs774775908", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774775908" }, { "id": "rs774775908", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774775908#frequency_tab" }, { "id": "rs774775908", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774775908" } ], "glycoeffect": [], "start_pos": 2132, "end_pos": 2132, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067810", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763024425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763024425" }, { "id": "rs763024425", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763024425" }, { "id": "rs763024425", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763024425" }, { "id": "rs763024425", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763024425#frequency_tab" }, { "id": "rs763024425", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763024425" } ], "glycoeffect": [], "start_pos": 2134, "end_pos": 2134, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067805", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2134", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs775659989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775659989" }, { "id": "rs775659989", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775659989" }, { "id": "rs775659989", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775659989#frequency_tab" }, { "id": "rs775659989", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775659989" } ], "glycoeffect": [], "start_pos": 2135, "end_pos": 2135, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067802", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs758265554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758265554" }, { "id": "rs758265554", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758265554" }, { "id": "rs758265554", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758265554#frequency_tab" }, { "id": "rs758265554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758265554" }, { "id": "rs758265554", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758265554" } ], "glycoeffect": [], "start_pos": 2135, "end_pos": 2135, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067801", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2135", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs775659989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775659989" }, { "id": "rs775659989", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775659989" }, { "id": "rs775659989", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775659989#frequency_tab" }, { "id": "rs775659989", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775659989" } ], "glycoeffect": [], "start_pos": 2135, "end_pos": 2135, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067802", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2136, "end_pos": 2136, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067798", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2136", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1013725681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1013725681" }, { "id": "rs1013725681", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1013725681#frequency_tab" } ], "glycoeffect": [], "start_pos": 2138, "end_pos": 2138, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067793", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1582402707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582402707" }, { "id": "rs1582402707", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582402707" } ], "glycoeffect": [], "start_pos": 2139, "end_pos": 2139, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067790", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2139", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1206497767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206497767" }, { "id": "rs1206497767", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1206497767#frequency_tab" }, { "id": "rs1206497767", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1206497767" }, { "id": "rs1206497767", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1206497767" } ], "glycoeffect": [], "start_pos": 2140, "end_pos": 2140, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067787", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2140", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs894895808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs894895808" }, { "id": "rs894895808", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs894895808#frequency_tab" }, { "id": "rs894895808", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs894895808" } ], "glycoeffect": [], "start_pos": 2140, "end_pos": 2140, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067786", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747005604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747005604" }, { "id": "rs747005604", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747005604" }, { "id": "rs747005604", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747005604" } ], "glycoeffect": [], "start_pos": 2141, "end_pos": 2141, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067783", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2141", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773110876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773110876" }, { "id": "rs773110876", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773110876" }, { "id": "rs773110876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773110876" } ], "glycoeffect": [], "start_pos": 2142, "end_pos": 2142, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067781", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369288131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369288131" }, { "id": "rs369288131", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369288131" }, { "id": "rs369288131", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369288131" }, { "id": "rs369288131", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369288131#frequency_tab" }, { "id": "rs369288131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369288131" } ], "glycoeffect": [], "start_pos": 2143, "end_pos": 2143, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067777", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "G2143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562824940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562824940" } ], "glycoeffect": [], "start_pos": 2143, "end_pos": 2143, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067779_32067781", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1413060979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413060979" }, { "id": "rs1413060979", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413060979" } ], "glycoeffect": [], "start_pos": 2144, "end_pos": 2144, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067775", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2144", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2145, "end_pos": 2145, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067770", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2145", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2145, "end_pos": 2145, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067772", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2145", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2148, "end_pos": 2148, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067763", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2148", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2149, "end_pos": 2149, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067759", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2149", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs376166829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376166829" }, { "id": "rs376166829", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376166829" }, { "id": "rs376166829", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376166829" }, { "id": "rs376166829", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376166829#frequency_tab" }, { "id": "rs376166829", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376166829" } ], "glycoeffect": [], "start_pos": 2149, "end_pos": 2149, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067759", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0", "site_lbl": "T2149", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 214, "end_pos": 214, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097212", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G214", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs373436925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373436925" }, { "id": "rs373436925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373436925" }, { "id": "rs373436925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373436925#frequency_tab" }, { "id": "rs373436925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373436925" } ], "glycoeffect": [], "start_pos": 2150, "end_pos": 2150, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067757", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373436925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373436925" }, { "id": "rs373436925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373436925" }, { "id": "rs373436925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373436925#frequency_tab" }, { "id": "rs373436925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373436925" } ], "glycoeffect": [], "start_pos": 2150, "end_pos": 2150, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067757", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757768417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757768417" }, { "id": "rs757768417", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757768417" }, { "id": "rs757768417", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757768417" } ], "glycoeffect": [], "start_pos": 2151, "end_pos": 2151, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067754", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2151", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757768417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757768417" }, { "id": "rs757768417", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757768417" }, { "id": "rs757768417", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757768417" }, { "id": "rs757768417", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs757768417" } ], "glycoeffect": [], "start_pos": 2151, "end_pos": 2151, "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067754", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2151", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs763266186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763266186" }, { "id": "rs763266186", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763266186" }, { "id": "rs763266186", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763266186#frequency_tab" }, { "id": "rs763266186", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763266186" } ], "glycoeffect": [], "start_pos": 2152, "end_pos": 2152, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067750", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763266186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763266186" }, { "id": "rs763266186", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763266186" }, { "id": "rs763266186", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763266186#frequency_tab" }, { "id": "rs763266186", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763266186" } ], "glycoeffect": [], "start_pos": 2152, "end_pos": 2152, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067750", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1160808140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160808140" }, { "id": "rs1160808140", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1160808140#frequency_tab" } ], "glycoeffect": [], "start_pos": 2152, "end_pos": 2152, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067751", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1160808140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160808140" }, { "id": "rs1160808140", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1160808140#frequency_tab" } ], "glycoeffect": [], "start_pos": 2152, "end_pos": 2152, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067751", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775542281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775542281" }, { "id": "rs775542281", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775542281" }, { "id": "rs775542281", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775542281#frequency_tab" }, { "id": "rs775542281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775542281" } ], "glycoeffect": [], "start_pos": 2153, "end_pos": 2153, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067748", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759520851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759520851" }, { "id": "rs759520851", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759520851" }, { "id": "rs759520851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759520851" } ], "glycoeffect": [], "start_pos": 2154, "end_pos": 2154, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067743", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2154", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483561596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483561596" } ], "glycoeffect": [], "start_pos": 2155, "end_pos": 2155, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067741", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1238592106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238592106" }, { "id": "rs1238592106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1238592106#frequency_tab" }, { "id": "rs1238592106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238592106" } ], "glycoeffect": [], "start_pos": 2155, "end_pos": 2155, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067742", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1238592106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238592106" }, { "id": "rs1238592106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1238592106#frequency_tab" }, { "id": "rs1238592106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238592106" } ], "glycoeffect": [], "start_pos": 2155, "end_pos": 2155, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067742", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2156, "end_pos": 2156, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067738", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G2156", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs772011228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772011228" }, { "id": "rs772011228", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772011228" }, { "id": "rs772011228", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772011228" } ], "glycoeffect": [], "start_pos": 2156, "end_pos": 2156, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067738", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2156", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778465879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778465879" }, { "id": "rs1778465879", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778465879#frequency_tab" } ], "glycoeffect": [], "start_pos": 2156, "end_pos": 2156, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067739", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2156", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs369153948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369153948" }, { "id": "rs369153948", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369153948" }, { "id": "rs369153948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369153948" }, { "id": "rs369153948", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369153948#frequency_tab" }, { "id": "rs369153948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369153948" } ], "glycoeffect": [], "start_pos": 2157, "end_pos": 2157, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067736", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2157", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768307848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768307848" }, { "id": "rs768307848", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768307848" }, { "id": "rs768307848", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768307848#frequency_tab" }, { "id": "rs768307848", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768307848" }, { "id": "rs768307848", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768307848" } ], "glycoeffect": [], "start_pos": 2157, "end_pos": 2157, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067735", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2157", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs768307848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768307848" }, { "id": "rs768307848", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768307848" }, { "id": "rs768307848", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768307848#frequency_tab" }, { "id": "rs768307848", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768307848" } ], "glycoeffect": [], "start_pos": 2157, "end_pos": 2157, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067735", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2157", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1330646257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330646257" }, { "id": "rs1330646257", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1330646257#frequency_tab" } ], "glycoeffect": [], "start_pos": 2160, "end_pos": 2160, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067727", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779563644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779563644" }, { "id": "rs779563644", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779563644" }, { "id": "rs779563644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779563644#frequency_tab" }, { "id": "rs779563644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779563644" } ], "glycoeffect": [], "start_pos": 2160, "end_pos": 2160, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067726", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2161, "end_pos": 2161, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067722", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M2161", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1231681959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231681959" }, { "id": "rs1231681959", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1231681959" } ], "glycoeffect": [], "start_pos": 2161, "end_pos": 2161, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067724", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755720564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755720564" }, { "id": "rs755720564", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755720564" }, { "id": "rs755720564", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755720564" } ], "glycoeffect": [], "start_pos": 2162, "end_pos": 2162, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067720", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377107322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377107322" }, { "id": "rs377107322", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377107322" }, { "id": "rs377107322", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377107322" }, { "id": "rs377107322", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377107322#frequency_tab" }, { "id": "rs377107322", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377107322" } ], "glycoeffect": [], "start_pos": 2165, "end_pos": 2165, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067712", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs377107322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377107322" }, { "id": "rs377107322", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377107322" }, { "id": "rs377107322", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377107322" }, { "id": "rs377107322", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377107322#frequency_tab" }, { "id": "rs377107322", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377107322" }, { "id": "rs377107322", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377107322" } ], "glycoeffect": [], "start_pos": 2165, "end_pos": 2165, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067712", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2165", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1778462254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778462254" }, { "id": "rs1778462254", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778462254" } ], "glycoeffect": [], "start_pos": 2166, "end_pos": 2166, "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067708", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2167, "end_pos": 2167, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067706", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H2167", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483560856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483560856" } ], "glycoeffect": [], "start_pos": 2168, "end_pos": 2168, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067702", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2168", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1393457283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393457283" }, { "id": "rs1393457283", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1393457283#frequency_tab" }, { "id": "rs1393457283", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393457283" } ], "glycoeffect": [], "start_pos": 2168, "end_pos": 2168, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067703", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2168", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs912459761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs912459761" }, { "id": "rs912459761", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs912459761#frequency_tab" }, { "id": "rs912459761", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs912459761" } ], "glycoeffect": [], "start_pos": 2169, "end_pos": 2169, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067699", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2169", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "rs757858505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757858505" }, { "id": "rs757858505", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757858505" }, { "id": "rs757858505", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757858505#frequency_tab" }, { "id": "rs757858505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757858505" } ], "glycoeffect": [], "start_pos": 2169, "end_pos": 2169, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067700", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2169, "end_pos": 2169, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067699", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2169", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780461065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780461065" }, { "id": "rs1780461065", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780461065" } ], "glycoeffect": [], "start_pos": 216, "end_pos": 216, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097206", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs184875282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184875282" } ], "glycoeffect": [], "start_pos": 2170, "end_pos": 2170, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067697", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs758666481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758666481" }, { "id": "rs758666481", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758666481" }, { "id": "rs758666481", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758666481#frequency_tab" }, { "id": "rs758666481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758666481" }, { "id": "rs758666481", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758666481" } ], "glycoeffect": [], "start_pos": 2170, "end_pos": 2170, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067696", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2170", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs184875282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184875282" }, { "id": "rs184875282", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs184875282" }, { "id": "rs184875282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184875282" }, { "id": "rs184875282", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs184875282#frequency_tab" }, { "id": "rs184875282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs184875282" }, { "id": "rs184875282", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs184875282" } ], "glycoeffect": [], "start_pos": 2170, "end_pos": 2170, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067697", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2170", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs759746642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759746642" }, { "id": "rs759746642", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759746642" }, { "id": "rs759746642", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759746642#frequency_tab" }, { "id": "rs759746642", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759746642" } ], "glycoeffect": [], "start_pos": 2171, "end_pos": 2171, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067693", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766408404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766408404" }, { "id": "rs766408404", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766408404" }, { "id": "rs766408404", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766408404#frequency_tab" }, { "id": "rs766408404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766408404" } ], "glycoeffect": [], "start_pos": 2172, "end_pos": 2172, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067691", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs766408404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766408404" }, { "id": "rs766408404", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766408404" }, { "id": "rs766408404", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766408404#frequency_tab" }, { "id": "rs766408404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766408404" } ], "glycoeffect": [], "start_pos": 2172, "end_pos": 2172, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067691", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2172", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs1331511914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331511914" }, { "id": "rs1331511914", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1331511914#frequency_tab" }, { "id": "rs1331511914", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1331511914" } ], "glycoeffect": [], "start_pos": 2173, "end_pos": 2173, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067687", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2173, "end_pos": 2173, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067687", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2173", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1212146133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212146133" }, { "id": "rs1212146133", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1212146133#frequency_tab" }, { "id": "rs1212146133", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212146133" } ], "glycoeffect": [], "start_pos": 2173, "end_pos": 2173, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067688", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212146133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212146133" }, { "id": "rs1212146133", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1212146133#frequency_tab" }, { "id": "rs1212146133", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212146133" } ], "glycoeffect": [], "start_pos": 2173, "end_pos": 2173, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067688", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778458152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778458152" }, { "id": "rs1778458152", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778458152#frequency_tab" } ], "glycoeffect": [], "start_pos": 2174, "end_pos": 2174, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067685", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1422813232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422813232" }, { "id": "rs1422813232", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1422813232#frequency_tab" } ], "glycoeffect": [], "start_pos": 2175, "end_pos": 2175, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067681", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778457429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778457429" }, { "id": "rs1778457429", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778457429" } ], "glycoeffect": [], "start_pos": 2175, "end_pos": 2175, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067682", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2176, "end_pos": 2176, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067678", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S2176", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1348612957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1348612957" }, { "id": "rs1348612957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1348612957" } ], "glycoeffect": [], "start_pos": 2177, "end_pos": 2177, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067675", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2177", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2177, "end_pos": 2177, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067675", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2177", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1276614805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276614805" }, { "id": "rs1276614805", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276614805" } ], "glycoeffect": [], "start_pos": 2178, "end_pos": 2178, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067673", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780460896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780460896" }, { "id": "rs1780460896", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780460896#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 217, "end_pos": 217, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097203", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1370089788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370089788" }, { "id": "rs1370089788", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1370089788#frequency_tab" }, { "id": "rs1370089788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370089788" } ], "glycoeffect": [], "start_pos": 2180, "end_pos": 2180, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067667", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768556892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768556892" }, { "id": "rs768556892", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768556892" }, { "id": "rs768556892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768556892" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2181, "end_pos": 2181, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32067663", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2181", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs974837760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs974837760" }, { "id": "rs974837760", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs974837760#frequency_tab" } ], "glycoeffect": [], "start_pos": 2182, "end_pos": 2182, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32067661", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2182", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779288094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779288094" }, { "id": "rs779288094", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779288094" }, { "id": "rs779288094", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779288094" } ], "glycoeffect": [], "start_pos": 2182, "end_pos": 2182, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065117", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2182", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2183, "end_pos": 2183, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065114", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2183", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs754026612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754026612" }, { "id": "rs754026612", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754026612" }, { "id": "rs754026612", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754026612#frequency_tab" }, { "id": "rs754026612", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754026612" } ], "glycoeffect": [], "start_pos": 2184, "end_pos": 2184, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065112", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2184", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1347104988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347104988" }, { "id": "rs1347104988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347104988" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2187, "end_pos": 2187, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065102", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324960394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324960394" }, { "id": "rs1324960394", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1324960394" } ], "glycoeffect": [], "start_pos": 2188, "end_pos": 2188, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065099", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324960394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324960394" }, { "id": "rs1324960394", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1324960394" } ], "glycoeffect": [], "start_pos": 2188, "end_pos": 2188, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065099", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1039877702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039877702" }, { "id": "rs1039877702", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1039877702#frequency_tab" } ], "glycoeffect": [], "start_pos": 2189, "end_pos": 2189, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065096", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2189", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1171066257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171066257" }, { "id": "rs1171066257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171066257" } ], "glycoeffect": [], "start_pos": 218, "end_pos": 218, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097201", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C218", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751561444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751561444" }, { "id": "rs751561444", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751561444" }, { "id": "rs751561444", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751561444#frequency_tab" }, { "id": "rs751561444", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751561444" } ], "glycoeffect": [], "start_pos": 2190, "end_pos": 2190, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065094", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2190", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751561444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751561444" }, { "id": "rs751561444", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751561444" }, { "id": "rs751561444", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751561444#frequency_tab" }, { "id": "rs751561444", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751561444" } ], "glycoeffect": [], "start_pos": 2190, "end_pos": 2190, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065094", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2190", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151910796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151910796" }, { "id": "rs2151910796", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151910796" } ], "glycoeffect": [], "start_pos": 2190, "end_pos": 2190, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065093", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2190", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778263909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778263909" }, { "id": "rs1778263909", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778263909#frequency_tab" } ], "glycoeffect": [], "start_pos": 2191, "end_pos": 2191, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065090", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778263075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778263075" }, { "id": "rs1778263075", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778263075#frequency_tab" } ], "glycoeffect": [], "start_pos": 2193, "end_pos": 2193, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065084", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2194, "end_pos": 2194, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065080", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K2194", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs553387411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553387411" }, { "id": "rs553387411", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs553387411" } ], "glycoeffect": [], "start_pos": 2194, "end_pos": 2194, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065082", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778262542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778262542" }, { "id": "rs1778262542", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778262542#frequency_tab" } ], "glycoeffect": [], "start_pos": 2195, "end_pos": 2195, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065078", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs747302691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747302691" }, { "id": "rs747302691", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747302691" }, { "id": "rs747302691", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747302691#frequency_tab" }, { "id": "rs747302691", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747302691" }, { "id": "rs747302691", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747302691" } ], "glycoeffect": [], "start_pos": 2196, "end_pos": 2196, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065076", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2196", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1433515024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1433515024" }, { "id": "rs1433515024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1433515024" } ], "glycoeffect": [], "start_pos": 2196, "end_pos": 2196, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065075", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1433515024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1433515024" }, { "id": "rs1433515024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1433515024" } ], "glycoeffect": [], "start_pos": 2196, "end_pos": 2196, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065075", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778260901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778260901" }, { "id": "rs1778260901", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778260901" } ], "glycoeffect": [], "start_pos": 2199, "end_pos": 2199, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065067", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778260901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778260901" }, { "id": "rs1778260901", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778260901" } ], "glycoeffect": [], "start_pos": 2199, "end_pos": 2199, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065067", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1477309355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477309355" }, { "id": "rs1477309355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477309355" } ], "glycoeffect": [], "start_pos": 219, "end_pos": 219, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097197", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 21, "end_pos": 21, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098137", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A21", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs1778259937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778259937" }, { "id": "rs1778259937", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778259937#frequency_tab" }, { "id": "rs1778259937", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778259937" } ], "glycoeffect": [], "start_pos": 2200, "end_pos": 2200, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065062", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1172302819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172302819" }, { "id": "rs1172302819", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1172302819#frequency_tab" }, { "id": "rs1172302819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172302819" } ], "glycoeffect": [], "start_pos": 2200, "end_pos": 2200, "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065063", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1172302819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172302819" }, { "id": "rs1172302819", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1172302819#frequency_tab" }, { "id": "rs1172302819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172302819" } ], "glycoeffect": [], "start_pos": 2200, "end_pos": 2200, "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065063", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373648872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373648872" }, { "id": "rs373648872", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373648872" }, { "id": "rs373648872", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373648872" }, { "id": "rs373648872", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373648872#frequency_tab" }, { "id": "rs373648872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373648872" } ], "glycoeffect": [], "start_pos": 2200, "end_pos": 2200, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065064", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "M2200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151910751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151910751" }, { "id": "rs2151910751", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151910751" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2201, "end_pos": 2201, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065060", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150876029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150876029" }, { "id": "rs150876029", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150876029" }, { "id": "rs150876029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150876029" }, { "id": "rs150876029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150876029#frequency_tab" }, { "id": "rs150876029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150876029" } ], "glycoeffect": [], "start_pos": 2203, "end_pos": 2203, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065054", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00412088", "site_lbl": "R2203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1420677001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420677001" }, { "id": "rs1420677001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420677001" } ], "glycoeffect": [], "start_pos": 2204, "end_pos": 2204, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065052", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371672736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371672736" }, { "id": "rs371672736", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371672736" }, { "id": "rs371672736", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371672736#frequency_tab" }, { "id": "rs371672736", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371672736" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2206, "end_pos": 2206, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065046", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2206", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2206, "end_pos": 2206, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065045", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T2206", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs772478675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772478675" }, { "id": "rs772478675", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772478675" }, { "id": "rs772478675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772478675#frequency_tab" }, { "id": "rs772478675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772478675" } ], "glycoeffect": [], "start_pos": 2208, "end_pos": 2208, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065040", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2208", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs772478675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772478675" }, { "id": "rs772478675", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772478675" }, { "id": "rs772478675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772478675#frequency_tab" }, { "id": "rs772478675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772478675" }, { "id": "rs772478675", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772478675" } ], "glycoeffect": [], "start_pos": 2208, "end_pos": 2208, "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065040", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2208", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1485371540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485371540" }, { "id": "rs1485371540", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1485371540" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2209, "end_pos": 2209, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065037", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1293355530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293355530" }, { "id": "rs1293355530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293355530" } ], "glycoeffect": [], "start_pos": 220, "end_pos": 220, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097194", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G220", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs778734003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778734003" }, { "id": "rs778734003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778734003" }, { "id": "rs778734003", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778734003#frequency_tab" }, { "id": "rs778734003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778734003" }, { "id": "rs778734003", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs778734003" } ], "glycoeffect": [], "start_pos": 220, "end_pos": 220, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097195", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G220", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1714055189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1714055189" }, { "id": "rs1714055189", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1714055189#frequency_tab" } ], "glycoeffect": [], "start_pos": 2210, "end_pos": 2210, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065034", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2211, "end_pos": 2211, "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065031", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S2211", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748648083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748648083" }, { "id": "rs748648083", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748648083" }, { "id": "rs748648083", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748648083" }, { "id": "rs748648083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748648083#frequency_tab" }, { "id": "rs748648083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748648083" } ], "glycoeffect": [], "start_pos": 2211, "end_pos": 2211, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065030", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs946271836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs946271836" }, { "id": "rs946271836", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs946271836" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2213, "end_pos": 2213, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065024", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778256373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778256373" }, { "id": "rs1778256373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778256373" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2213, "end_pos": 2213, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065025", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1437463329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437463329" }, { "id": "rs1437463329", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437463329#frequency_tab" }, { "id": "rs1437463329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437463329" } ], "glycoeffect": [], "start_pos": 2214, "end_pos": 2214, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065020", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W2214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778255517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778255517" }, { "id": "rs1778255517", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778255517#frequency_tab" }, { "id": "rs1778255517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778255517" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2215, "end_pos": 2215, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065019", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T2215", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1294600170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294600170" }, { "id": "rs1294600170", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1294600170#frequency_tab" }, { "id": "rs1294600170", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1294600170" }, { "id": "rs1294600170", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294600170" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2215, "end_pos": 2215, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065018", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T2215", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs1380927789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380927789" }, { "id": "rs1380927789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1380927789" } ], "glycoeffect": [], "start_pos": 2216, "end_pos": 2216, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065015", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212538512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212538512" }, { "id": "rs1212538512", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212538512" } ], "glycoeffect": [], "start_pos": 2216, "end_pos": 2216, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065016", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2217, "end_pos": 2217, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065012", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2217", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs142409885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142409885" }, { "id": "rs142409885", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142409885" }, { "id": "rs142409885", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142409885" }, { "id": "rs142409885", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142409885#frequency_tab" }, { "id": "rs142409885", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142409885" } ], "glycoeffect": [], "start_pos": 2217, "end_pos": 2217, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065013", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000784929", "site_lbl": "P2217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs142409885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142409885" }, { "id": "rs142409885", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142409885" }, { "id": "rs142409885", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142409885" }, { "id": "rs142409885", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142409885#frequency_tab" }, { "id": "rs142409885", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142409885" } ], "glycoeffect": [], "start_pos": 2217, "end_pos": 2217, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065013", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000784929", "site_lbl": "P2217", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ] }, { "evidence": [ { "id": "rs756258221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756258221" }, { "id": "rs756258221", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756258221" }, { "id": "rs756258221", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756258221" } ], "glycoeffect": [], "start_pos": 2218, "end_pos": 2218, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065009", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2218", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs530280191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530280191" }, { "id": "rs530280191", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530280191" }, { "id": "rs530280191", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530280191#frequency_tab" }, { "id": "rs530280191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530280191" }, { "id": "rs530280191", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530280191" } ], "glycoeffect": [], "start_pos": 2218, "end_pos": 2218, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32065010", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2218", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1187718696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187718696" }, { "id": "rs1187718696", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1187718696#frequency_tab" }, { "id": "rs1187718696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187718696" } ], "glycoeffect": [], "start_pos": 2221, "end_pos": 2221, "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32065001", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750477849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750477849" }, { "id": "rs750477849", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750477849" }, { "id": "rs750477849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750477849" }, { "id": "rs1187718696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187718696" }, { "id": "rs1187718696", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1187718696#frequency_tab" }, { "id": "rs1187718696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187718696" } ], "glycoeffect": [], "start_pos": 2221, "end_pos": 2221, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064999", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs901400958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs901400958" }, { "id": "rs901400958", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs901400958#frequency_tab" }, { "id": "rs901400958", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs901400958" } ], "glycoeffect": [], "start_pos": 2223, "end_pos": 2223, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064993", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs934260225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs934260225" }, { "id": "rs934260225", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs934260225#frequency_tab" } ], "glycoeffect": [], "start_pos": 2223, "end_pos": 2223, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064994", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778252551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778252551" }, { "id": "rs1778252551", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778252551" } ], "glycoeffect": [], "start_pos": 2223, "end_pos": 2223, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064995", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2224, "end_pos": 2224, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064990", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F2224", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs547332886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547332886" }, { "id": "rs547332886", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547332886" }, { "id": "rs547332886", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547332886" }, { "id": "rs547332886", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs547332886#frequency_tab" }, { "id": "rs547332886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547332886" } ], "glycoeffect": [], "start_pos": 2225, "end_pos": 2225, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064987", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "L2225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1408544860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408544860" }, { "id": "rs1408544860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408544860" } ], "glycoeffect": [], "start_pos": 2225, "end_pos": 2225, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064989", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2227, "end_pos": 2227, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064982", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q2227", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs752651618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752651618" }, { "id": "rs752651618", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752651618" }, { "id": "rs752651618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752651618" } ], "glycoeffect": [], "start_pos": 2228, "end_pos": 2228, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064978", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3749960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3749960" }, { "id": "rs3749960", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs3749960" }, { "id": "rs3749960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3749960" }, { "id": "rs3749960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs3749960#frequency_tab" }, { "id": "rs3749960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs3749960" } ], "glycoeffect": [], "start_pos": 2228, "end_pos": 2228, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064979", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0172684", "site_lbl": "F2228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2229, "end_pos": 2229, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064975", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K2229", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1255493936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1255493936" }, { "id": "rs1255493936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1255493936" } ], "glycoeffect": [], "start_pos": 2229, "end_pos": 2229, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064976", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2229", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754569180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754569180" }, { "id": "rs754569180", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754569180" }, { "id": "rs754569180", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754569180#frequency_tab" }, { "id": "rs754569180", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754569180" } ], "glycoeffect": [], "start_pos": 222, "end_pos": 222, "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097189", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1325868686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325868686" }, { "id": "rs1325868686", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1325868686#frequency_tab" }, { "id": "rs1325868686", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325868686" } ], "glycoeffect": [], "start_pos": 222, "end_pos": 222, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097188", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2231, "end_pos": 2231, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064970", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2231", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs204883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs204883" }, { "id": "rs204883", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs204883" }, { "id": "rs204883", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs204883" }, { "id": "rs204883", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs204883#frequency_tab" }, { "id": "rs204883", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs204883" } ], "glycoeffect": [], "start_pos": 2232, "end_pos": 2232, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064966", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2232", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2232, "end_pos": 2232, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064968", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D2232", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs571291130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs571291130" }, { "id": "rs571291130", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs571291130" }, { "id": "rs571291130", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs571291130" }, { "id": "rs571291130", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs571291130#frequency_tab" }, { "id": "rs571291130", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs571291130" }, { "id": "rs571291130", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs571291130" } ], "glycoeffect": [], "start_pos": 2232, "end_pos": 2232, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064968", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2232", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs571291130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs571291130" }, { "id": "rs571291130", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs571291130" }, { "id": "rs571291130", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs571291130" }, { "id": "rs571291130", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs571291130#frequency_tab" }, { "id": "rs571291130", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs571291130" } ], "glycoeffect": [], "start_pos": 2232, "end_pos": 2232, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064968", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2232", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778249189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778249189" }, { "id": "rs1778249189", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778249189" } ], "glycoeffect": [], "start_pos": 2233, "end_pos": 2233, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064964", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2233", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778249439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778249439" }, { "id": "rs1778249439", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778249439#frequency_tab" } ], "glycoeffect": [], "start_pos": 2233, "end_pos": 2233, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064965", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2233", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2234, "end_pos": 2234, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064962", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q2234", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2235, "end_pos": 2235, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064959", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2235", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs772627987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772627987" }, { "id": "rs772627987", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772627987" }, { "id": "rs772627987", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772627987#frequency_tab" }, { "id": "rs772627987", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772627987" } ], "glycoeffect": [], "start_pos": 2237, "end_pos": 2237, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064953", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1273500963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273500963" }, { "id": "rs1273500963", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1273500963#frequency_tab" }, { "id": "rs1273500963", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273500963" }, { "id": "rs1273500963", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1273500963" } ], "glycoeffect": [], "start_pos": 2237, "end_pos": 2237, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064952", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2237", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2238, "end_pos": 2238, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064950", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2238", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs375698113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375698113" }, { "id": "rs375698113", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375698113" }, { "id": "rs375698113", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375698113#frequency_tab" }, { "id": "rs375698113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375698113" }, { "id": "rs375698113", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375698113" } ], "glycoeffect": [], "start_pos": 2239, "end_pos": 2239, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064946", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2239", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs375698113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375698113" }, { "id": "rs375698113", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375698113" }, { "id": "rs375698113", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375698113#frequency_tab" }, { "id": "rs375698113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375698113" } ], "glycoeffect": [], "start_pos": 2239, "end_pos": 2239, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064946", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2239", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs531109815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531109815" }, { "id": "rs531109815", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531109815" }, { "id": "rs531109815", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531109815" }, { "id": "rs531109815", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs531109815#frequency_tab" }, { "id": "rs531109815", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs531109815" }, { "id": "rs531109815", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531109815" } ], "glycoeffect": [], "start_pos": 2239, "end_pos": 2239, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064947", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2239", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2483765382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483765382" } ], "glycoeffect": [], "start_pos": 223, "end_pos": 223, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097185", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371038535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371038535" }, { "id": "rs371038535", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371038535" }, { "id": "rs371038535", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371038535#frequency_tab" }, { "id": "rs371038535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371038535" } ], "glycoeffect": [], "start_pos": 2241, "end_pos": 2241, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064940", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2241, "end_pos": 2241, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064941", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2241", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1434854939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434854939" }, { "id": "rs1434854939", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434854939#frequency_tab" }, { "id": "rs1434854939", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434854939" } ], "glycoeffect": [], "start_pos": 2242, "end_pos": 2242, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064938", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2242", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778245416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778245416" }, { "id": "rs1778245416", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778245416#frequency_tab" } ], "glycoeffect": [], "start_pos": 2243, "end_pos": 2243, "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064934", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2243", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756355931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756355931" }, { "id": "rs756355931", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756355931" }, { "id": "rs756355931", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756355931" } ], "glycoeffect": [], "start_pos": 2243, "end_pos": 2243, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064935", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2243", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2244, "end_pos": 2244, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064932", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2244", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs377071098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377071098" }, { "id": "rs377071098", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377071098" }, { "id": "rs377071098", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377071098#frequency_tab" }, { "id": "rs377071098", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377071098" } ], "glycoeffect": [], "start_pos": 2244, "end_pos": 2244, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064932", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2244", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs757339984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757339984" }, { "id": "rs757339984", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757339984" }, { "id": "rs757339984", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757339984" } ], "glycoeffect": [], "start_pos": 2245, "end_pos": 2245, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064928", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2245", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs951288911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs951288911" }, { "id": "rs951288911", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs951288911" } ], "glycoeffect": [], "start_pos": 2246, "end_pos": 2246, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064925", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2246", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2247, "end_pos": 2247, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064922", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V2247", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs752636576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752636576" }, { "id": "rs752636576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752636576" }, { "id": "rs752636576", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752636576#frequency_tab" }, { "id": "rs752636576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752636576" } ], "glycoeffect": [], "start_pos": 2247, "end_pos": 2247, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064923", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752636576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752636576" }, { "id": "rs752636576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752636576" }, { "id": "rs752636576", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752636576#frequency_tab" }, { "id": "rs752636576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752636576" } ], "glycoeffect": [], "start_pos": 2247, "end_pos": 2247, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064923", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1197354927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197354927" }, { "id": "rs1197354927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197354927" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2248, "end_pos": 2248, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064920", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2248", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2248, "end_pos": 2248, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064919", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2248", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs563910971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563910971" } ], "glycoeffect": [], "start_pos": 2249, "end_pos": 2249, "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064917", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs563910971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563910971" }, { "id": "rs563910971", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563910971" } ], "glycoeffect": [], "start_pos": 2249, "end_pos": 2249, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064917", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "I2249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780459140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780459140" }, { "id": "rs1780459140", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780459140#frequency_tab" } ], "glycoeffect": [], "start_pos": 224, "end_pos": 224, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097182", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 224, "end_pos": 224, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32044009", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G224", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778241867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778241867" }, { "id": "rs1778241867", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778241867#frequency_tab" }, { "id": "rs1778241867", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778241867" }, { "id": "rs1778241867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778241867" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2250, "end_pos": 2250, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064913", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2250", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs2483537047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483537047" } ], "glycoeffect": [], "start_pos": 2251, "end_pos": 2251, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064910", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369271286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369271286" }, { "id": "rs369271286", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369271286" }, { "id": "rs369271286", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369271286#frequency_tab" }, { "id": "rs369271286", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369271286" } ], "glycoeffect": [], "start_pos": 2252, "end_pos": 2252, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064907", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2253, "end_pos": 2253, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064905", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2253", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1562819567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562819567" }, { "id": "rs1562819567", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562819567" } ], "glycoeffect": [], "start_pos": 2254, "end_pos": 2254, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064902", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2254", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1332267129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332267129" }, { "id": "rs1332267129", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1332267129#frequency_tab" }, { "id": "rs1332267129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332267129" } ], "glycoeffect": [], "start_pos": 2256, "end_pos": 2256, "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064895", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1332267129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332267129" }, { "id": "rs1332267129", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1332267129#frequency_tab" }, { "id": "rs1332267129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332267129" } ], "glycoeffect": [], "start_pos": 2256, "end_pos": 2256, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064895", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2256, "end_pos": 2256, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064896", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H2256", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778239713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778239713" }, { "id": "rs1778239713", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778239713#frequency_tab" }, { "id": "rs1778239713", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778239713" } ], "glycoeffect": [], "start_pos": 2257, "end_pos": 2257, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064893", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2257", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760285109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760285109" }, { "id": "rs760285109", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760285109" }, { "id": "rs760285109", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760285109#frequency_tab" }, { "id": "rs760285109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760285109" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2258, "end_pos": 2258, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064888", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778238785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778238785" }, { "id": "rs1778238785", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778238785#frequency_tab" } ], "glycoeffect": [], "start_pos": 2259, "end_pos": 2259, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064887", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2259", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1343425847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343425847" }, { "id": "rs1343425847", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1343425847" } ], "glycoeffect": [], "start_pos": 225, "end_pos": 225, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097180", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs532306311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532306311" }, { "id": "rs532306311", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532306311" }, { "id": "rs532306311", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532306311" }, { "id": "rs532306311", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs532306311#frequency_tab" }, { "id": "rs532306311", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs532306311" } ], "glycoeffect": [], "start_pos": 225, "end_pos": 225, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097179", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R225", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483536647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483536647" } ], "glycoeffect": [], "start_pos": 2260, "end_pos": 2260, "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064883", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2260", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483536628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483536628" } ], "glycoeffect": [], "start_pos": 2261, "end_pos": 2261, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064879", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761379811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761379811" }, { "id": "rs761379811", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761379811" }, { "id": "rs761379811", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761379811" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2263, "end_pos": 2263, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064875", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2263", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2264, "end_pos": 2264, "subjects_tested": "1557", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064871", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2264", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1373753165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373753165" }, { "id": "rs1373753165", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1373753165#frequency_tab" }, { "id": "rs1373753165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373753165" } ], "glycoeffect": [], "start_pos": 2264, "end_pos": 2264, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064872", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2264", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1017984962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1017984962" }, { "id": "rs1017984962", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1017984962" } ], "glycoeffect": [], "start_pos": 2266, "end_pos": 2266, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064865", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2266", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1007048716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1007048716" }, { "id": "rs1007048716", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1007048716#frequency_tab" }, { "id": "rs1007048716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1007048716" } ], "glycoeffect": [], "start_pos": 2267, "end_pos": 2267, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064863", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2267", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749742731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749742731" }, { "id": "rs749742731", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749742731" }, { "id": "rs749742731", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749742731#frequency_tab" }, { "id": "rs749742731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749742731" }, { "id": "rs749742731", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749742731" } ], "glycoeffect": [], "start_pos": 2269, "end_pos": 2269, "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064857", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2269", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs2483765327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483765327" } ], "glycoeffect": [], "start_pos": 226, "end_pos": 226, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097176", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G226", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs775868209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775868209" }, { "id": "rs775868209", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775868209" }, { "id": "rs775868209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775868209" }, { "id": "rs775868209", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775868209" } ], "glycoeffect": [], "start_pos": 2270, "end_pos": 2270, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064853", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2270", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs140770834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140770834" }, { "id": "rs140770834", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140770834" }, { "id": "rs140770834", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140770834" }, { "id": "rs140770834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140770834#frequency_tab" }, { "id": "rs140770834", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140770834" }, { "id": "rs140770834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140770834" } ], "glycoeffect": [], "start_pos": 2271, "end_pos": 2271, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064851", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V2271", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs140770834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140770834" }, { "id": "rs140770834", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140770834" }, { "id": "rs140770834", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140770834" }, { "id": "rs140770834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140770834#frequency_tab" }, { "id": "rs140770834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140770834" }, { "id": "rs140770834", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140770834" } ], "glycoeffect": [], "start_pos": 2271, "end_pos": 2271, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064851", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2271", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2272, "end_pos": 2272, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064847", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2272", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2272, "end_pos": 2272, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064848", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2272", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778234154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778234154" }, { "id": "rs1778234154", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778234154#frequency_tab" }, { "id": "rs1778234154", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778234154" } ], "glycoeffect": [], "start_pos": 2273, "end_pos": 2273, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064845", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2273", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778234154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778234154" }, { "id": "rs1778234154", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778234154#frequency_tab" }, { "id": "rs1778234154", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778234154" } ], "glycoeffect": [], "start_pos": 2273, "end_pos": 2273, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064845", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2273", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777941950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777941950" }, { "id": "rs777941950", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777941950" }, { "id": "rs777941950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777941950#frequency_tab" }, { "id": "rs777941950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777941950" } ], "glycoeffect": [], "start_pos": 2274, "end_pos": 2274, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064842", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2274", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs777941950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777941950" }, { "id": "rs777941950", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777941950" }, { "id": "rs777941950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777941950#frequency_tab" }, { "id": "rs777941950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777941950" } ], "glycoeffect": [], "start_pos": 2274, "end_pos": 2274, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32064842", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2274", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1466957093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466957093" }, { "id": "rs1466957093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466957093" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2275, "end_pos": 2275, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064839", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2275", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754996110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754996110" }, { "id": "rs754996110", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754996110" }, { "id": "rs754996110", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754996110" } ], "glycoeffect": [], "start_pos": 2277, "end_pos": 2277, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064833", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2277", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754996110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754996110" }, { "id": "rs754996110", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754996110" }, { "id": "rs754996110", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754996110" } ], "glycoeffect": [], "start_pos": 2277, "end_pos": 2277, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064833", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2277", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1016095149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1016095149" }, { "id": "rs1016095149", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1016095149" } ], "glycoeffect": [], "start_pos": 2278, "end_pos": 2278, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064829", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2278", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs761304114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761304114" }, { "id": "rs761304114", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761304114" }, { "id": "rs761304114", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761304114" } ], "glycoeffect": [], "start_pos": 227, "end_pos": 227, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097174", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750943669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750943669" }, { "id": "rs750943669", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750943669" }, { "id": "rs750943669", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750943669" } ], "glycoeffect": [], "start_pos": 227, "end_pos": 227, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097173", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 227, "end_pos": 227, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097173", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R227", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778232291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778232291" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2280, "end_pos": 2280, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064825", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2280", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs577196501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577196501" }, { "id": "rs577196501", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577196501" }, { "id": "rs577196501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577196501" }, { "id": "rs577196501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs577196501#frequency_tab" }, { "id": "rs577196501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577196501" } ], "glycoeffect": [], "start_pos": 2281, "end_pos": 2281, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32064821", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "A2281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778092372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778092372" }, { "id": "rs1778092372", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778092372" } ], "glycoeffect": [], "start_pos": 2282, "end_pos": 2282, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062480", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2283, "end_pos": 2283, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062477", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2283", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs866003105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866003105" }, { "id": "rs866003105", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866003105" } ], "glycoeffect": [], "start_pos": 2285, "end_pos": 2285, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062472", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2285", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2287, "end_pos": 2287, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062466", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2287", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs775957919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775957919" }, { "id": "rs775957919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775957919" }, { "id": "rs775957919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775957919" } ], "glycoeffect": [], "start_pos": 2287, "end_pos": 2287, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062466", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2287", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1281737711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281737711" }, { "id": "rs1281737711", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1281737711#frequency_tab" }, { "id": "rs1281737711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1281737711" } ], "glycoeffect": [], "start_pos": 2288, "end_pos": 2288, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062462", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2288", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778091308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778091308" }, { "id": "rs1778091308", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778091308" } ], "glycoeffect": [], "start_pos": 2289, "end_pos": 2289, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062460", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2289", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs770116919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770116919" }, { "id": "rs770116919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770116919" }, { "id": "rs770116919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770116919" } ], "glycoeffect": [], "start_pos": 2289, "end_pos": 2289, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062459", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2289", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2290, "end_pos": 2290, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062457", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P2290", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs1778090687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778090687" }, { "id": "rs1778090687", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778090687" } ], "glycoeffect": [], "start_pos": 2291, "end_pos": 2291, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062453", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778090893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778090893" }, { "id": "rs1778090893", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778090893" } ], "glycoeffect": [], "start_pos": 2291, "end_pos": 2291, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062454", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483520395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483520395" } ], "glycoeffect": [], "start_pos": 2294, "end_pos": 2294, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062444", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2295, "end_pos": 2295, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062441", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2295", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs747151051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747151051" }, { "id": "rs747151051", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747151051" }, { "id": "rs747151051", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747151051#frequency_tab" }, { "id": "rs747151051", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747151051" } ], "glycoeffect": [], "start_pos": 2295, "end_pos": 2295, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062442", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2295", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1383032642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1383032642" }, { "id": "rs1383032642", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1383032642" } ], "glycoeffect": [], "start_pos": 2296, "end_pos": 2296, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062438", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2296", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151908289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151908289" }, { "id": "rs2151908289", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151908289" } ], "glycoeffect": [], "start_pos": 2299, "end_pos": 2299, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062429", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369735650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369735650" }, { "id": "rs369735650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369735650" }, { "id": "rs369735650", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369735650#frequency_tab" }, { "id": "rs369735650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369735650" } ], "glycoeffect": [], "start_pos": 2299, "end_pos": 2299, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062430", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1341105985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341105985" }, { "id": "rs1341105985", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1341105985#frequency_tab" }, { "id": "rs1341105985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341105985" } ], "glycoeffect": [], "start_pos": 229, "end_pos": 229, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097168", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V229", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1341105985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341105985" }, { "id": "rs1341105985", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1341105985#frequency_tab" }, { "id": "rs1341105985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341105985" } ], "glycoeffect": [], "start_pos": 229, "end_pos": 229, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097168", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V229", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755936032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755936032" }, { "id": "rs755936032", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755936032" }, { "id": "rs755936032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755936032" } ], "glycoeffect": [], "start_pos": 2300, "end_pos": 2300, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062426", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2300", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755936032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755936032" }, { "id": "rs755936032", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755936032" }, { "id": "rs755936032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755936032" } ], "glycoeffect": [], "start_pos": 2300, "end_pos": 2300, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062426", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2300", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs970284543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs970284543" }, { "id": "rs970284543", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs970284543#frequency_tab" }, { "id": "rs970284543", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs970284543" }, { "id": "rs970284543", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs970284543" } ], "glycoeffect": [], "start_pos": 2300, "end_pos": 2300, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062427", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2300", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "rs970284543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs970284543" }, { "id": "rs970284543", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs970284543#frequency_tab" }, { "id": "rs970284543", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs970284543" } ], "glycoeffect": [], "start_pos": 2300, "end_pos": 2300, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062427", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2300", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2269428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2269428" }, { "id": "rs2269428", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2269428" }, { "id": "rs2269428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2269428" }, { "id": "rs2269428", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2269428#frequency_tab" }, { "id": "rs2269428", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2269428" }, { "id": "rs2269428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2269428" } ], "glycoeffect": [], "start_pos": 2301, "end_pos": 2301, "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32062423", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "0.01378", "site_lbl": "P2301", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1778086531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778086531" }, { "id": "rs1778086531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778086531#frequency_tab" } ], "glycoeffect": [], "start_pos": 2302, "end_pos": 2302, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062419", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2302", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483519684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483519684" } ], "glycoeffect": [], "start_pos": 2303, "end_pos": 2303, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062418", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2303", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs185625145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185625145" }, { "id": "rs185625145", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185625145" }, { "id": "rs185625145", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185625145" }, { "id": "rs185625145", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs185625145#frequency_tab" }, { "id": "rs185625145", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs185625145" } ], "glycoeffect": [], "start_pos": 2305, "end_pos": 2305, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062412", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R2305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs185625145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185625145" }, { "id": "rs185625145", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185625145" }, { "id": "rs185625145", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185625145" }, { "id": "rs185625145", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs185625145#frequency_tab" }, { "id": "rs185625145", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs185625145" } ], "glycoeffect": [], "start_pos": 2305, "end_pos": 2305, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062412", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R2305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs763647914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763647914" }, { "id": "rs763647914", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763647914" }, { "id": "rs763647914", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763647914#frequency_tab" }, { "id": "rs763647914", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763647914" }, { "id": "rs763647914", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763647914" } ], "glycoeffect": [], "start_pos": 2305, "end_pos": 2305, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062411", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2305", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs185625145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185625145" }, { "id": "rs185625145", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185625145" }, { "id": "rs185625145", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185625145" }, { "id": "rs185625145", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs185625145#frequency_tab" }, { "id": "rs185625145", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs185625145" } ], "glycoeffect": [], "start_pos": 2305, "end_pos": 2305, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062412", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R2305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1449613686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449613686" }, { "id": "rs1449613686", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1449613686#frequency_tab" }, { "id": "rs1449613686", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1449613686" } ], "glycoeffect": [], "start_pos": 2308, "end_pos": 2308, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062403", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2308", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200416807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200416807" }, { "id": "rs200416807", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200416807" }, { "id": "rs200416807", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200416807#frequency_tab" }, { "id": "rs200416807", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200416807" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2310, "end_pos": 2310, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062397", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs765779230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765779230" }, { "id": "rs765779230", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765779230" }, { "id": "rs765779230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765779230" }, { "id": "rs765779230", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765779230" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2310, "end_pos": 2310, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062396", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2310", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs765779230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765779230" }, { "id": "rs765779230", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765779230" }, { "id": "rs765779230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765779230" } ], "glycoeffect": [], "start_pos": 2310, "end_pos": 2310, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062396", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777077674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777077674" } ], "glycoeffect": [], "start_pos": 2311, "end_pos": 2311, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062394", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2311", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778083524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778083524" }, { "id": "rs1778083524", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778083524" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2312, "end_pos": 2312, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062390", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2312", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1363350812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363350812" }, { "id": "rs1363350812", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1363350812#frequency_tab" }, { "id": "rs1363350812", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363350812" } ], "glycoeffect": [], "start_pos": 2313, "end_pos": 2313, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062387", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2313", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs771167775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771167775" }, { "id": "rs771167775", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771167775" }, { "id": "rs771167775", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771167775#frequency_tab" }, { "id": "rs771167775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771167775" }, { "id": "rs771167775", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771167775" } ], "glycoeffect": [], "start_pos": 2314, "end_pos": 2314, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062384", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2314", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1160475620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160475620" }, { "id": "rs1160475620", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1160475620#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2315, "end_pos": 2315, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062382", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2315", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196796121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196796121" }, { "id": "rs1196796121", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1196796121#frequency_tab" }, { "id": "rs1196796121", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196796121" } ], "glycoeffect": [], "start_pos": 2316, "end_pos": 2316, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062378", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2316", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2316, "end_pos": 2316, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062379", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2316", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2317, "end_pos": 2317, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062374", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2317", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2318, "end_pos": 2318, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062372", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2318", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1480132893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480132893" }, { "id": "rs1480132893", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1480132893#frequency_tab" }, { "id": "rs1480132893", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480132893" } ], "glycoeffect": [], "start_pos": 2318, "end_pos": 2318, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062373", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778081197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778081197" }, { "id": "rs1778081197", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778081197#frequency_tab" } ], "glycoeffect": [], "start_pos": 2319, "end_pos": 2319, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062370", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2319", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762197443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762197443" }, { "id": "rs762197443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762197443" }, { "id": "rs762197443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762197443" } ], "glycoeffect": [], "start_pos": 231, "end_pos": 231, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097161", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762197443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762197443" }, { "id": "rs762197443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762197443" }, { "id": "rs762197443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762197443" }, { "id": "rs762197443", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs762197443" } ], "glycoeffect": [], "start_pos": 231, "end_pos": 231, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097161", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G231", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs762197443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762197443" }, { "id": "rs762197443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762197443" }, { "id": "rs762197443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762197443" } ], "glycoeffect": [], "start_pos": 231, "end_pos": 231, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097161", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772343865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772343865" }, { "id": "rs772343865", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772343865" }, { "id": "rs772343865", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772343865#frequency_tab" }, { "id": "rs772343865", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772343865" } ], "glycoeffect": [], "start_pos": 2321, "end_pos": 2321, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062364", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2321", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1335643759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335643759" }, { "id": "rs1335643759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335643759" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2322, "end_pos": 2322, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062361", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs572819170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572819170" }, { "id": "rs572819170", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572819170" }, { "id": "rs572819170", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572819170" }, { "id": "rs572819170", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572819170" } ], "glycoeffect": [], "start_pos": 2323, "end_pos": 2323, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062356", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "W2323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140304758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140304758" }, { "id": "rs140304758", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140304758" }, { "id": "rs140304758", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140304758" }, { "id": "rs140304758", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140304758#frequency_tab" }, { "id": "rs140304758", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140304758" } ], "glycoeffect": [], "start_pos": 2325, "end_pos": 2325, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062352", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "V2325", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140304758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140304758" }, { "id": "rs140304758", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140304758" }, { "id": "rs140304758", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140304758" }, { "id": "rs140304758", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140304758#frequency_tab" }, { "id": "rs140304758", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140304758" } ], "glycoeffect": [], "start_pos": 2325, "end_pos": 2325, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062352", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "V2325", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2326, "end_pos": 2326, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062348", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2326", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs757980679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757980679" }, { "id": "rs757980679", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757980679" }, { "id": "rs757980679", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757980679#frequency_tab" }, { "id": "rs757980679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757980679" }, { "id": "rs757980679", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs757980679" } ], "glycoeffect": [], "start_pos": 2326, "end_pos": 2326, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062349", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2326", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs757980679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757980679" }, { "id": "rs757980679", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757980679" }, { "id": "rs757980679", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757980679#frequency_tab" }, { "id": "rs757980679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757980679" } ], "glycoeffect": [], "start_pos": 2326, "end_pos": 2326, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062349", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2326", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764604500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764604500" }, { "id": "rs764604500", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764604500" }, { "id": "rs764604500", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764604500#frequency_tab" }, { "id": "rs764604500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764604500" } ], "glycoeffect": [], "start_pos": 2327, "end_pos": 2327, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062346", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2327", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1470868193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470868193" }, { "id": "rs1470868193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1470868193" } ], "glycoeffect": [], "start_pos": 2327, "end_pos": 2327, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062344", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2327", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs764604500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764604500" }, { "id": "rs764604500", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764604500" }, { "id": "rs764604500", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764604500#frequency_tab" }, { "id": "rs764604500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764604500" }, { "id": "rs764604500", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764604500" } ], "glycoeffect": [], "start_pos": 2327, "end_pos": 2327, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062346", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2327", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1402321094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402321094" }, { "id": "rs1402321094", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402321094" }, { "id": "rs1402321094", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1402321094" } ], "glycoeffect": [], "start_pos": 232, "end_pos": 232, "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097158", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V232", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1465984365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465984365" }, { "id": "rs1465984365", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1465984365" }, { "id": "rs1465984365", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1465984365#frequency_tab" }, { "id": "rs1465984365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465984365" } ], "glycoeffect": [], "start_pos": 232, "end_pos": 232, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097159", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V232", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1356903899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356903899" }, { "id": "rs1356903899", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1356903899#frequency_tab" } ], "glycoeffect": [], "start_pos": 2331, "end_pos": 2331, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062333", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2332, "end_pos": 2332, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062329", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H2332", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1221457777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221457777" }, { "id": "rs1221457777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1221457777#frequency_tab" } ], "glycoeffect": [], "start_pos": 2333, "end_pos": 2333, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062328", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778075934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778075934" }, { "id": "rs1778075934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778075934" } ], "glycoeffect": [], "start_pos": 2334, "end_pos": 2334, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062324", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2334", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778075701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778075701" }, { "id": "rs1778075701", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778075701#frequency_tab" } ], "glycoeffect": [], "start_pos": 2335, "end_pos": 2335, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062322", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2335", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778075243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778075243" }, { "id": "rs1778075243", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778075243" } ], "glycoeffect": [], "start_pos": 2336, "end_pos": 2336, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062317", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2336", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2336, "end_pos": 2336, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062319", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q2336", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs755541130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755541130" }, { "id": "rs755541130", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755541130" }, { "id": "rs755541130", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755541130" } ], "glycoeffect": [], "start_pos": 2336, "end_pos": 2336, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062318", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2336", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2337, "end_pos": 2337, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062314", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y2337", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1778075013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778075013" }, { "id": "rs1778075013", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778075013" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2337, "end_pos": 2337, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062316", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2337", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151908130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151908130" }, { "id": "rs2151908130", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151908130" } ], "glycoeffect": [], "start_pos": 2338, "end_pos": 2338, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062312", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774675861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774675861" }, { "id": "rs774675861", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774675861" }, { "id": "rs774675861", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774675861" }, { "id": "rs774675861", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774675861" } ], "glycoeffect": [], "start_pos": 233, "end_pos": 233, "sequence_org": "C", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097156", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C233", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1464860268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464860268" }, { "id": "rs1464860268", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464860268" } ], "glycoeffect": [], "start_pos": 233, "end_pos": 233, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097155", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C233", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754276918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754276918" }, { "id": "rs754276918", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754276918" }, { "id": "rs754276918", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754276918#frequency_tab" }, { "id": "rs754276918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754276918" } ], "glycoeffect": [], "start_pos": 2340, "end_pos": 2340, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062306", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2340, "end_pos": 2340, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062307", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2340", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2151908126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151908126" }, { "id": "rs2151908126", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151908126" } ], "glycoeffect": [], "start_pos": 2341, "end_pos": 2341, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062304", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2341", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs766824889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766824889" }, { "id": "rs766824889", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766824889" }, { "id": "rs766824889", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766824889" } ], "glycoeffect": [], "start_pos": 2342, "end_pos": 2342, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062300", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2342", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs773643246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773643246" }, { "id": "rs773643246", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773643246" }, { "id": "rs773643246", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773643246" } ], "glycoeffect": [], "start_pos": 2345, "end_pos": 2345, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062292", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1484473041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484473041" }, { "id": "rs1484473041", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1484473041" } ], "glycoeffect": [], "start_pos": 2346, "end_pos": 2346, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062288", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2346", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2483517726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483517726" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2347, "end_pos": 2347, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062286", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T2347", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs747752926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747752926" }, { "id": "rs747752926", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747752926" }, { "id": "rs747752926", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747752926#frequency_tab" }, { "id": "rs747752926", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747752926" } ], "glycoeffect": [], "start_pos": 2348, "end_pos": 2348, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062283", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368054590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368054590" }, { "id": "rs368054590", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368054590" }, { "id": "rs368054590", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368054590" }, { "id": "rs368054590", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368054590#frequency_tab" }, { "id": "rs368054590", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368054590" } ], "glycoeffect": [], "start_pos": 2348, "end_pos": 2348, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062282", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R2348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368054590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368054590" }, { "id": "rs368054590", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368054590" }, { "id": "rs368054590", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368054590" }, { "id": "rs368054590", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368054590#frequency_tab" }, { "id": "rs368054590", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368054590" } ], "glycoeffect": [], "start_pos": 2348, "end_pos": 2348, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062282", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R2348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747752926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747752926" }, { "id": "rs747752926", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747752926" }, { "id": "rs747752926", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747752926#frequency_tab" }, { "id": "rs747752926", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747752926" } ], "glycoeffect": [], "start_pos": 2348, "end_pos": 2348, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062283", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2349, "end_pos": 2349, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062279", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V2349", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs774516957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774516957" }, { "id": "rs774516957", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774516957" }, { "id": "rs774516957", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774516957#frequency_tab" }, { "id": "rs774516957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774516957" } ], "glycoeffect": [], "start_pos": 2349, "end_pos": 2349, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062280", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2349", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs774516957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774516957" }, { "id": "rs774516957", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774516957" }, { "id": "rs774516957", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774516957#frequency_tab" }, { "id": "rs774516957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774516957" } ], "glycoeffect": [], "start_pos": 2349, "end_pos": 2349, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062280", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2350, "end_pos": 2350, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062277", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2350", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201638755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201638755" }, { "id": "rs201638755", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201638755" }, { "id": "rs201638755", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201638755" }, { "id": "rs201638755", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201638755#frequency_tab" }, { "id": "rs201638755", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201638755" } ], "glycoeffect": [], "start_pos": 2351, "end_pos": 2351, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062274", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2351", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1366918112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366918112" }, { "id": "rs1366918112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1366918112#frequency_tab" }, { "id": "rs1366918112", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1366918112" } ], "glycoeffect": [], "start_pos": 2352, "end_pos": 2352, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062271", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H2352", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778070447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778070447" }, { "id": "rs1778070447", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778070447#frequency_tab" } ], "glycoeffect": [], "start_pos": 2353, "end_pos": 2353, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062268", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2353", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1393340697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393340697" }, { "id": "rs1393340697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393340697" } ], "glycoeffect": [], "start_pos": 2354, "end_pos": 2354, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062263", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776422892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776422892" }, { "id": "rs776422892", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776422892" }, { "id": "rs776422892", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776422892#frequency_tab" }, { "id": "rs776422892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776422892" } ], "glycoeffect": [], "start_pos": 2354, "end_pos": 2354, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062264", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2354, "end_pos": 2354, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062265", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2354", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1323468059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323468059" }, { "id": "rs1323468059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323468059" } ], "glycoeffect": [], "start_pos": 2355, "end_pos": 2355, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062262", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483517219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483517219" } ], "glycoeffect": [], "start_pos": 2355, "end_pos": 2355, "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062261", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371622048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371622048" }, { "id": "rs371622048", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371622048" }, { "id": "rs371622048", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371622048#frequency_tab" }, { "id": "rs371622048", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371622048" } ], "glycoeffect": [], "start_pos": 2360, "end_pos": 2360, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062247", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2360", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371622048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371622048" }, { "id": "rs371622048", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371622048" }, { "id": "rs371622048", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371622048#frequency_tab" }, { "id": "rs371622048", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371622048" } ], "glycoeffect": [], "start_pos": 2360, "end_pos": 2360, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062247", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2360", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778068201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778068201" }, { "id": "rs1778068201", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778068201" }, { "id": "rs1778068201", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778068201" } ], "glycoeffect": [], "start_pos": 2360, "end_pos": 2360, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062246", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2360", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs758070717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758070717" }, { "id": "rs758070717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758070717" }, { "id": "rs758070717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758070717" } ], "glycoeffect": [], "start_pos": 2361, "end_pos": 2361, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062244", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2361", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2269428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2269428" }, { "id": "rs2269428", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2269428" }, { "id": "rs2269428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2269428" }, { "id": "rs2269428", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2269428#frequency_tab" }, { "id": "rs2269428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2269428" } ], "glycoeffect": [], "start_pos": 2363, "end_pos": 2363, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062423", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2363, "end_pos": 2363, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062237", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2363", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483516933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483516933" } ], "glycoeffect": [], "start_pos": 2363, "end_pos": 2363, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062237", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1334467320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334467320" }, { "id": "rs1334467320", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334467320" } ], "glycoeffect": [], "start_pos": 2363, "end_pos": 2363, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062238", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2364, "end_pos": 2364, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062235", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2364", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1195935577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195935577" }, { "id": "rs1195935577", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195935577#frequency_tab" }, { "id": "rs1195935577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195935577" } ], "glycoeffect": [], "start_pos": 2365, "end_pos": 2365, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062232", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N2365", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs747759124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747759124" }, { "id": "rs747759124", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747759124" }, { "id": "rs747759124", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747759124" } ], "glycoeffect": [], "start_pos": 2366, "end_pos": 2366, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062229", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754432391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754432391" }, { "id": "rs754432391", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754432391" }, { "id": "rs754432391", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754432391#frequency_tab" }, { "id": "rs754432391", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754432391" } ], "glycoeffect": [], "start_pos": 2368, "end_pos": 2368, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062223", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2368", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754433724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754433724" }, { "id": "rs754433724", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754433724" } ], "glycoeffect": [], "start_pos": 2368, "end_pos": 2368, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062221", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2368", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151908032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151908032" }, { "id": "rs2151908032", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151908032" } ], "glycoeffect": [], "start_pos": 2369, "end_pos": 2369, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062218", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2369", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763079484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763079484" }, { "id": "rs763079484", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763079484" }, { "id": "rs763079484", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763079484#frequency_tab" }, { "id": "rs763079484", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763079484" } ], "glycoeffect": [], "start_pos": 236, "end_pos": 236, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097147", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775695202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775695202" }, { "id": "rs775695202", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775695202" }, { "id": "rs775695202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775695202#frequency_tab" }, { "id": "rs775695202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775695202" } ], "glycoeffect": [], "start_pos": 236, "end_pos": 236, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097146", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775695202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775695202" }, { "id": "rs775695202", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775695202" }, { "id": "rs775695202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775695202#frequency_tab" }, { "id": "rs775695202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775695202" } ], "glycoeffect": [], "start_pos": 236, "end_pos": 236, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097146", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763079484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763079484" }, { "id": "rs763079484", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763079484" }, { "id": "rs763079484", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763079484#frequency_tab" }, { "id": "rs763079484", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763079484" } ], "glycoeffect": [], "start_pos": 236, "end_pos": 236, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097147", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1448889614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448889614" }, { "id": "rs1448889614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448889614" }, { "id": "rs1448889614", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1448889614" } ], "glycoeffect": [], "start_pos": 2370, "end_pos": 2370, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062215", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2370", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs534213145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534213145" } ], "glycoeffect": [], "start_pos": 2371, "end_pos": 2371, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062214", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368613736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368613736" }, { "id": "rs368613736", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368613736" }, { "id": "rs368613736", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368613736" }, { "id": "rs368613736", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368613736#frequency_tab" }, { "id": "rs368613736", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368613736" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2372, "end_pos": 2372, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062209", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2372", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2372, "end_pos": 2372, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "Y", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062211", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y2372", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs374241654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374241654" }, { "id": "rs374241654", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374241654" }, { "id": "rs374241654", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374241654#frequency_tab" }, { "id": "rs374241654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374241654" } ], "glycoeffect": [], "start_pos": 2373, "end_pos": 2373, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062208", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2373", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762163503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762163503" }, { "id": "rs762163503", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762163503" }, { "id": "rs762163503", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762163503#frequency_tab" }, { "id": "rs762163503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762163503" } ], "glycoeffect": [], "start_pos": 2375, "end_pos": 2375, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062201", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2375", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs764295837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764295837" }, { "id": "rs764295837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764295837" }, { "id": "rs764295837", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764295837#frequency_tab" }, { "id": "rs764295837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764295837" }, { "id": "rs764295837", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764295837" } ], "glycoeffect": [], "start_pos": 2376, "end_pos": 2376, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062199", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2376", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs764295837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764295837" }, { "id": "rs764295837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764295837" }, { "id": "rs764295837", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764295837#frequency_tab" }, { "id": "rs764295837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764295837" }, { "id": "rs764295837", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764295837" } ], "glycoeffect": [], "start_pos": 2376, "end_pos": 2376, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062199", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2376", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1345361251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1345361251" }, { "id": "rs1345361251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1345361251" } ], "glycoeffect": [], "start_pos": 2378, "end_pos": 2378, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062191", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2378", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1466093434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466093434" }, { "id": "rs1466093434", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1466093434#frequency_tab" }, { "id": "rs1466093434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466093434" }, { "id": "rs1466093434", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1466093434" } ], "glycoeffect": [], "start_pos": 2379, "end_pos": 2379, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062190", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2379", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "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": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs151142594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151142594" }, { "id": "rs151142594", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs151142594" }, { "id": "rs151142594", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151142594" }, { "id": "rs151142594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151142594#frequency_tab" }, { "id": "rs151142594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151142594" } ], "glycoeffect": [], "start_pos": 2379, "end_pos": 2379, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062189", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R2379", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs151142594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151142594" }, { "id": "rs151142594", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs151142594" }, { "id": "rs151142594", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151142594" }, { "id": "rs151142594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151142594#frequency_tab" }, { "id": "rs151142594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151142594" } ], "glycoeffect": [], "start_pos": 2379, "end_pos": 2379, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062189", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R2379", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780454030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780454030" }, { "id": "rs1780454030", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780454030#frequency_tab" } ], "glycoeffect": [], "start_pos": 237, "end_pos": 237, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097143", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769774428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769774428" }, { "id": "rs769774428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769774428" }, { "id": "rs769774428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769774428" } ], "glycoeffect": [], "start_pos": 237, "end_pos": 237, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097144", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs769774428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769774428" }, { "id": "rs769774428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769774428" }, { "id": "rs769774428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769774428" }, { "id": "rs769774428", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769774428" } ], "glycoeffect": [], "start_pos": 237, "end_pos": 237, "subjects_tested": "2617", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097144", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A237", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 237, "end_pos": 237, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097143", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A237", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2151907974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151907974" }, { "id": "rs2151907974", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151907974" } ], "glycoeffect": [], "start_pos": 2380, "end_pos": 2380, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062186", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2380", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1197620907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197620907" }, { "id": "rs1197620907", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1197620907#frequency_tab" }, { "id": "rs1197620907", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197620907" } ], "glycoeffect": [], "start_pos": 2380, "end_pos": 2380, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062187", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2380", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1359236981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359236981" }, { "id": "rs1359236981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359236981" } ], "glycoeffect": [], "start_pos": 2381, "end_pos": 2381, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062183", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2381, "end_pos": 2381, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062184", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2381", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2382, "end_pos": 2382, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062180", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2382", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2383, "end_pos": 2383, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062178", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V2383", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1455027347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1455027347" }, { "id": "rs1455027347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1455027347" }, { "id": "rs1455027347", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1455027347" } ], "glycoeffect": [], "start_pos": 2383, "end_pos": 2383, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062178", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2383", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs770870386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770870386" }, { "id": "rs770870386", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770870386" }, { "id": "rs770870386", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770870386#frequency_tab" }, { "id": "rs770870386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770870386" } ], "glycoeffect": [], "start_pos": 2384, "end_pos": 2384, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062175", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2384", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778060025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778060025" }, { "id": "rs1778060025", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778060025" } ], "glycoeffect": [], "start_pos": 2385, "end_pos": 2385, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062171", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2385", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201201973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201201973" }, { "id": "rs201201973", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201201973" }, { "id": "rs201201973", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201201973#frequency_tab" }, { "id": "rs201201973", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201201973" } ], "glycoeffect": [], "start_pos": 2386, "end_pos": 2386, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062167", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2386", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771823327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771823327" }, { "id": "rs771823327", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771823327" }, { "id": "rs771823327", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771823327#frequency_tab" }, { "id": "rs771823327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771823327" } ], "glycoeffect": [], "start_pos": 2387, "end_pos": 2387, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062166", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2387", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2387, "end_pos": 2387, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32062165", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2387", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs778426181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778426181" }, { "id": "rs778426181", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778426181" }, { "id": "rs778426181", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778426181#frequency_tab" }, { "id": "rs778426181", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778426181" } ], "glycoeffect": [], "start_pos": 2388, "end_pos": 2388, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062163", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2388", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778426181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778426181" }, { "id": "rs778426181", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778426181" }, { "id": "rs778426181", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778426181#frequency_tab" }, { "id": "rs778426181", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778426181" } ], "glycoeffect": [], "start_pos": 2388, "end_pos": 2388, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062163", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2388", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778058157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778058157" }, { "id": "rs1778058157", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778058157#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2389, "end_pos": 2389, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062160", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2389", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs543687601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543687601" }, { "id": "rs543687601", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543687601" }, { "id": "rs543687601", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543687601" }, { "id": "rs543687601", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs543687601" } ], "glycoeffect": [], "start_pos": 238, "end_pos": 238, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097140", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778057954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778057954" }, { "id": "rs1778057954", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778057954" } ], "glycoeffect": [], "start_pos": 2390, "end_pos": 2390, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32062157", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2390", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748928220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748928220" }, { "id": "rs748928220", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748928220" }, { "id": "rs748928220", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748928220#frequency_tab" }, { "id": "rs748928220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748928220" } ], "glycoeffect": [], "start_pos": 2390, "end_pos": 2390, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061720", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2390", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769402135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769402135" }, { "id": "rs769402135", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769402135" }, { "id": "rs769402135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769402135" }, { "id": "rs769402135", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769402135" } ], "glycoeffect": [], "start_pos": 2391, "end_pos": 2391, "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061718", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2391", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2392, "end_pos": 2392, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061713", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2392", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs56144119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs56144119" }, { "id": "rs56144119", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs56144119" }, { "id": "rs56144119", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs56144119" } ], "glycoeffect": [], "start_pos": 2392, "end_pos": 2392, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061715", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2392", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2392, "end_pos": 2392, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061715", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2392", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778029831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778029831" }, { "id": "rs1778029831", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778029831" }, { "id": "rs1778029831", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778029831" } ], "glycoeffect": [], "start_pos": 2393, "end_pos": 2393, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061712", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2393", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2394, "end_pos": 2394, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061707", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2394", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778029416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778029416" }, { "id": "rs1778029416", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778029416#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2395, "end_pos": 2395, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061706", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778029216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778029216" }, { "id": "rs1778029216", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778029216#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2395, "end_pos": 2395, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061705", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2396, "end_pos": 2396, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061702", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2396", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs746438333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746438333" }, { "id": "rs746438333", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746438333" }, { "id": "rs746438333", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746438333#frequency_tab" }, { "id": "rs746438333", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746438333" } ], "glycoeffect": [], "start_pos": 2396, "end_pos": 2396, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061702", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2396", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304810390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304810390" }, { "id": "rs1304810390", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1304810390#frequency_tab" }, { "id": "rs1304810390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304810390" } ], "glycoeffect": [], "start_pos": 2396, "end_pos": 2396, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061703", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2396", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778028423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778028423" }, { "id": "rs1778028423", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778028423" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2397, "end_pos": 2397, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061699", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441553265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441553265" }, { "id": "rs1441553265", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1441553265#frequency_tab" }, { "id": "rs1441553265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441553265" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2397, "end_pos": 2397, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061698", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1444901496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1444901496" }, { "id": "rs1444901496", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1444901496" }, { "id": "rs1444901496", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1444901496" } ], "glycoeffect": [], "start_pos": 2398, "end_pos": 2398, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061696", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2398", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs868844624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868844624" }, { "id": "rs868844624", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868844624" } ], "glycoeffect": [], "start_pos": 2398, "end_pos": 2398, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061697", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2398", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127292917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127292917" }, { "id": "rs2127292917", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127292917" } ], "glycoeffect": [], "start_pos": 239, "end_pos": 239, "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097138", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F239", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1464969608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464969608" }, { "id": "rs1464969608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464969608" } ], "glycoeffect": [], "start_pos": 23, "end_pos": 23, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098132", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A23", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756471108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756471108" }, { "id": "rs756471108", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756471108" } ], "glycoeffect": [], "start_pos": 23, "end_pos": 23, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098131", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A23", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2400, "end_pos": 2400, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061691", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2400", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778027221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778027221" }, { "id": "rs1778027221", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778027221" }, { "id": "rs1778027221", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778027221" } ], "glycoeffect": [], "start_pos": 2400, "end_pos": 2400, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061691", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2400", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2483511462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483511462" } ], "glycoeffect": [], "start_pos": 2401, "end_pos": 2401, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061687", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2401", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778026812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778026812" }, { "id": "rs1778026812", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778026812#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2402, "end_pos": 2402, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061685", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2402", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377384792", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377384792" }, { "id": "rs377384792", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377384792" }, { "id": "rs377384792", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377384792#frequency_tab" }, { "id": "rs377384792", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377384792" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2402, "end_pos": 2402, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061684", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2402", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778026080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778026080" }, { "id": "rs1778026080", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778026080#frequency_tab" }, { "id": "rs1778026080", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778026080" } ], "glycoeffect": [], "start_pos": 2403, "end_pos": 2403, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061680", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M2403", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1420235971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420235971" }, { "id": "rs1420235971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1420235971#frequency_tab" }, { "id": "rs1420235971", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420235971" } ], "glycoeffect": [], "start_pos": 2403, "end_pos": 2403, "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061681", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2403", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1420235971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420235971" }, { "id": "rs1420235971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1420235971#frequency_tab" }, { "id": "rs1420235971", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420235971" }, { "id": "rs1420235971", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1420235971" } ], "glycoeffect": [], "start_pos": 2403, "end_pos": 2403, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061681", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "M2403", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs751886446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751886446" }, { "id": "rs751886446", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751886446" }, { "id": "rs751886446", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751886446#frequency_tab" }, { "id": "rs751886446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751886446" } ], "glycoeffect": [], "start_pos": 2404, "end_pos": 2404, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061679", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751886446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751886446" }, { "id": "rs751886446", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751886446" }, { "id": "rs751886446", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751886446#frequency_tab" }, { "id": "rs751886446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751886446" } ], "glycoeffect": [], "start_pos": 2404, "end_pos": 2404, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061679", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778025612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778025612" }, { "id": "rs1778025612", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778025612" } ], "glycoeffect": [], "start_pos": 2405, "end_pos": 2405, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061676", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2405", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778151096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778151096" }, { "id": "rs778151096", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778151096" }, { "id": "rs778151096", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778151096#frequency_tab" }, { "id": "rs778151096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778151096" } ], "glycoeffect": [], "start_pos": 2406, "end_pos": 2406, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061672", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2406", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2407, "end_pos": 2407, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061668", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2407", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs758582374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758582374" }, { "id": "rs758582374", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758582374" }, { "id": "rs758582374", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758582374" } ], "glycoeffect": [], "start_pos": 2407, "end_pos": 2407, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061669", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2407", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2407, "end_pos": 2407, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061670", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2407", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2407, "end_pos": 2407, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061670", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2407", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs752885123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752885123" }, { "id": "rs752885123", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752885123" }, { "id": "rs752885123", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752885123" } ], "glycoeffect": [], "start_pos": 2408, "end_pos": 2408, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061667", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752885123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752885123" }, { "id": "rs752885123", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752885123" }, { "id": "rs752885123", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752885123" } ], "glycoeffect": [], "start_pos": 2408, "end_pos": 2408, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061667", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2409, "end_pos": 2409, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061664", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P2409", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1196474149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196474149" }, { "id": "rs1196474149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196474149" } ], "glycoeffect": [], "start_pos": 2409, "end_pos": 2409, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061663", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2409", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2409, "end_pos": 2409, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061664", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2409", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1199728115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1199728115" }, { "id": "rs1199728115", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1199728115" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 240, "end_pos": 240, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097134", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S240", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs759607141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759607141" }, { "id": "rs759607141", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759607141" }, { "id": "rs759607141", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759607141" } ], "glycoeffect": [], "start_pos": 2410, "end_pos": 2410, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061660", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2410", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765350422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765350422" }, { "id": "rs765350422", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765350422" }, { "id": "rs765350422", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765350422" } ], "glycoeffect": [], "start_pos": 2410, "end_pos": 2410, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061661", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2410", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2411, "end_pos": 2411, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061657", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2411", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs12524664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12524664" }, { "id": "rs12524664", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs12524664" }, { "id": "rs12524664", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12524664" }, { "id": "rs12524664", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs12524664#frequency_tab" }, { "id": "rs12524664", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs12524664" } ], "glycoeffect": [], "start_pos": 2412, "end_pos": 2412, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061654", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2412", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs12524664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12524664" }, { "id": "rs12524664", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs12524664" }, { "id": "rs12524664", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12524664" }, { "id": "rs12524664", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs12524664#frequency_tab" }, { "id": "rs12524664", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs12524664" } ], "glycoeffect": [], "start_pos": 2412, "end_pos": 2412, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061654", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2412", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1308429338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308429338" }, { "id": "rs1308429338", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308429338" } ], "glycoeffect": [], "start_pos": 2413, "end_pos": 2413, "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061652", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778022001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778022001" }, { "id": "rs1778022001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778022001#frequency_tab" }, { "id": "rs1778022001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778022001" } ], "glycoeffect": [], "start_pos": 2415, "end_pos": 2415, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061645", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768462715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768462715" }, { "id": "rs768462715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768462715" }, { "id": "rs768462715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768462715#frequency_tab" }, { "id": "rs768462715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768462715" }, { "id": "rs768462715", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768462715" } ], "glycoeffect": [], "start_pos": 2415, "end_pos": 2415, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061646", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G2415", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778022001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778022001" }, { "id": "rs1778022001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778022001#frequency_tab" }, { "id": "rs1778022001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778022001" }, { "id": "rs1778022001", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778022001" } ], "glycoeffect": [], "start_pos": 2415, "end_pos": 2415, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061645", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2415", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768462715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768462715" }, { "id": "rs768462715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768462715" }, { "id": "rs768462715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768462715#frequency_tab" }, { "id": "rs768462715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768462715" }, { "id": "rs768462715", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768462715" } ], "glycoeffect": [], "start_pos": 2415, "end_pos": 2415, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061646", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2415", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2416, "end_pos": 2416, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061642", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E2416", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs769498174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769498174" }, { "id": "rs769498174", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769498174" }, { "id": "rs769498174", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769498174" }, { "id": "rs2483510629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483510629" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2418, "end_pos": 2418, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061636", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2418", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 241, "end_pos": 241, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097131", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G241", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs2483510569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483510569" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2420, "end_pos": 2420, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061630", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2420", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2421, "end_pos": 2421, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061627", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2421", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2421, "end_pos": 2421, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061628", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2421", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2422, "end_pos": 2422, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061624", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2422", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2425, "end_pos": 2425, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061616", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2425", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2426, "end_pos": 2426, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061613", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S2426", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs747511703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747511703" }, { "id": "rs747511703", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747511703" }, { "id": "rs747511703", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747511703#frequency_tab" }, { "id": "rs747511703", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747511703" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2426, "end_pos": 2426, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061612", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747511703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747511703" }, { "id": "rs747511703", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747511703" }, { "id": "rs747511703", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747511703#frequency_tab" }, { "id": "rs747511703", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747511703" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2426, "end_pos": 2426, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061612", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151907326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151907326" }, { "id": "rs2151907326", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151907326" } ], "glycoeffect": [], "start_pos": 2427, "end_pos": 2427, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061609", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2427", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1384231059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384231059" }, { "id": "rs1384231059", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384231059#frequency_tab" }, { "id": "rs1384231059", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1384231059" } ], "glycoeffect": [], "start_pos": 2429, "end_pos": 2429, "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061603", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2429", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 242, "end_pos": 242, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097129", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P242", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1457595802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457595802" }, { "id": "rs1457595802", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457595802#frequency_tab" }, { "id": "rs1457595802", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457595802" } ], "glycoeffect": [], "start_pos": 242, "end_pos": 242, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097128", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778018615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778018615" }, { "id": "rs1778018615", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1778018615" } ], "glycoeffect": [], "start_pos": 2431, "end_pos": 2431, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061596", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W2431", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs17207902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207902" }, { "id": "rs17207902", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17207902" }, { "id": "rs17207902", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207902" }, { "id": "rs17207902", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs17207902#frequency_tab" }, { "id": "rs17207902", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs17207902" } ], "glycoeffect": [], "start_pos": 2433, "end_pos": 2433, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061592", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2433", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212684690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212684690" }, { "id": "rs1212684690", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212684690" } ], "glycoeffect": [], "start_pos": 2434, "end_pos": 2434, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061588", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2434", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2434, "end_pos": 2434, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061589", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2434", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs527290986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527290986" }, { "id": "rs527290986", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527290986" }, { "id": "rs527290986", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527290986" }, { "id": "rs527290986", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs527290986#frequency_tab" }, { "id": "rs527290986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs527290986" } ], "glycoeffect": [], "start_pos": 2436, "end_pos": 2436, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061582", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2436", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs527290986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527290986" }, { "id": "rs527290986", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527290986" }, { "id": "rs527290986", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527290986" }, { "id": "rs527290986", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs527290986#frequency_tab" }, { "id": "rs527290986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs527290986" } ], "glycoeffect": [], "start_pos": 2436, "end_pos": 2436, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061582", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2436", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs546910118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546910118" }, { "id": "rs546910118", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs546910118" } ], "glycoeffect": [], "start_pos": 2436, "end_pos": 2436, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061583", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2436", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs527290986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527290986" }, { "id": "rs527290986", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527290986" }, { "id": "rs527290986", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527290986" }, { "id": "rs527290986", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs527290986#frequency_tab" }, { "id": "rs527290986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs527290986" } ], "glycoeffect": [], "start_pos": 2436, "end_pos": 2436, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061582", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2436", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766438769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766438769" }, { "id": "rs766438769", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766438769" }, { "id": "rs766438769", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766438769#frequency_tab" }, { "id": "rs766438769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766438769" } ], "glycoeffect": [], "start_pos": 2437, "end_pos": 2437, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061580", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766438769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766438769" }, { "id": "rs766438769", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766438769" }, { "id": "rs766438769", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766438769#frequency_tab" }, { "id": "rs766438769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766438769" } ], "glycoeffect": [], "start_pos": 2437, "end_pos": 2437, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061580", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757178741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757178741" }, { "id": "rs757178741", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757178741" }, { "id": "rs757178741", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757178741" } ], "glycoeffect": [], "start_pos": 2437, "end_pos": 2437, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061579", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2437, "end_pos": 2437, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061579", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2437", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs192927455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs192927455" }, { "id": "rs192927455", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs192927455" }, { "id": "rs192927455", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs192927455" }, { "id": "rs192927455", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs192927455#frequency_tab" }, { "id": "rs192927455", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs192927455" }, { "id": "rs1454903699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454903699" }, { "id": "rs1454903699", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1454903699#frequency_tab" }, { "id": "rs1454903699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454903699" } ], "glycoeffect": [], "start_pos": 2438, "end_pos": 2438, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061575", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2438", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2439, "end_pos": 2439, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061574", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2439", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 243, "end_pos": 243, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097125", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D243", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748008150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748008150" }, { "id": "rs748008150", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748008150" }, { "id": "rs748008150", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748008150#frequency_tab" }, { "id": "rs748008150", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748008150" } ], "glycoeffect": [], "start_pos": 243, "end_pos": 243, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097126", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D243", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748008150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748008150" }, { "id": "rs748008150", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748008150" }, { "id": "rs748008150", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748008150#frequency_tab" }, { "id": "rs748008150", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748008150" } ], "glycoeffect": [], "start_pos": 243, "end_pos": 243, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097126", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D243", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs763850103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763850103" }, { "id": "rs763850103", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763850103" }, { "id": "rs763850103", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763850103" }, { "id": "rs763850103", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763850103" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2442, "end_pos": 2442, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061564", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2442", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs763850103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763850103" }, { "id": "rs763850103", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763850103" }, { "id": "rs763850103", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763850103" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2442, "end_pos": 2442, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061564", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2442", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201904621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201904621" }, { "id": "rs201904621", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201904621" }, { "id": "rs201904621", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201904621#frequency_tab" }, { "id": "rs201904621", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201904621" }, { "id": "rs201904621", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201904621" } ], "glycoeffect": [], "start_pos": 2443, "end_pos": 2443, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061562", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2443", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1388784919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388784919" }, { "id": "rs1388784919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388784919" } ], "glycoeffect": [], "start_pos": 2444, "end_pos": 2444, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061559", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2444", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759219344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759219344" }, { "id": "rs759219344", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759219344" }, { "id": "rs759219344", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759219344" } ], "glycoeffect": [], "start_pos": 2444, "end_pos": 2444, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061558", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2444", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778013776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778013776" }, { "id": "rs1778013776", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778013776#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2445, "end_pos": 2445, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061554", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2445", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151907242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151907242" }, { "id": "rs2151907242", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151907242" } ], "glycoeffect": [], "start_pos": 2446, "end_pos": 2446, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061551", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2446", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1778013566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778013566" }, { "id": "rs1778013566", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778013566#frequency_tab" }, { "id": "rs1778013566", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1778013566" } ], "glycoeffect": [], "start_pos": 2447, "end_pos": 2447, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061550", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2447", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs747521071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747521071" }, { "id": "rs747521071", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747521071" }, { "id": "rs747521071", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747521071" }, { "id": "rs747521071", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747521071#frequency_tab" }, { "id": "rs747521071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747521071" } ], "glycoeffect": [], "start_pos": 2449, "end_pos": 2449, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061542", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2449", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2449, "end_pos": 2449, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061544", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2449", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2450, "end_pos": 2450, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061540", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2450", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs373494712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373494712" }, { "id": "rs373494712", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373494712" }, { "id": "rs373494712", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373494712" }, { "id": "rs373494712", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373494712#frequency_tab" }, { "id": "rs373494712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373494712" }, { "id": "rs373494712", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373494712" } ], "glycoeffect": [], "start_pos": 2450, "end_pos": 2450, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061541", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2450", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201131695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201131695" }, { "id": "rs201131695", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201131695" }, { "id": "rs201131695", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201131695" }, { "id": "rs201131695", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201131695#frequency_tab" }, { "id": "rs201131695", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201131695" }, { "id": "rs201131695", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201131695" } ], "glycoeffect": [], "start_pos": 2451, "end_pos": 2451, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061537", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2451", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201990072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201990072" }, { "id": "rs201990072", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201990072" }, { "id": "rs201990072", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201990072#frequency_tab" }, { "id": "rs201990072", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201990072" } ], "glycoeffect": [], "start_pos": 2451, "end_pos": 2451, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061538", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2451", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1356822752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356822752" }, { "id": "rs1356822752", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1356822752#frequency_tab" }, { "id": "rs1356822752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356822752" } ], "glycoeffect": [], "start_pos": 2452, "end_pos": 2452, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061535", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2452", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs755223727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755223727" }, { "id": "rs755223727", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755223727" }, { "id": "rs755223727", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755223727#frequency_tab" }, { "id": "rs755223727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755223727" } ], "glycoeffect": [], "start_pos": 2453, "end_pos": 2453, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061530", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2453", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200659611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200659611" }, { "id": "rs200659611", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200659611" }, { "id": "rs200659611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200659611" }, { "id": "rs200659611", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200659611" } ], "glycoeffect": [], "start_pos": 2454, "end_pos": 2454, "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061528", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2454", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1778009837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778009837" }, { "id": "rs1778009837", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778009837#frequency_tab" }, { "id": "rs1778009837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778009837" } ], "glycoeffect": [], "start_pos": 2455, "end_pos": 2455, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061525", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1286015153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286015153" }, { "id": "rs1286015153", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1286015153#frequency_tab" }, { "id": "rs1286015153", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286015153" } ], "glycoeffect": [], "start_pos": 2455, "end_pos": 2455, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061526", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs780042565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780042565" }, { "id": "rs780042565", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780042565" }, { "id": "rs780042565", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780042565#frequency_tab" }, { "id": "rs780042565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780042565" }, { "id": "rs780042565", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780042565" } ], "glycoeffect": [], "start_pos": 2456, "end_pos": 2456, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061523", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2456", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs866389765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866389765" }, { "id": "rs866389765", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs866389765#frequency_tab" }, { "id": "rs866389765", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs866389765" }, { "id": "rs866389765", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs866389765" } ], "glycoeffect": [], "start_pos": 2456, "end_pos": 2456, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061522", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2456", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1431941095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431941095" }, { "id": "rs1431941095", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1431941095#frequency_tab" }, { "id": "rs1431941095", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431941095" } ], "glycoeffect": [], "start_pos": 2457, "end_pos": 2457, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061520", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2458, "end_pos": 2458, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061516", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2458", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751515333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751515333" }, { "id": "rs751515333", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751515333" }, { "id": "rs751515333", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751515333#frequency_tab" }, { "id": "rs751515333", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751515333" } ], "glycoeffect": [], "start_pos": 2458, "end_pos": 2458, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061517", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1329607092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329607092" }, { "id": "rs1329607092", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329607092" } ], "glycoeffect": [], "start_pos": 2459, "end_pos": 2459, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061513", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2459", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780451974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780451974" }, { "id": "rs1780451974", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780451974#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 245, "end_pos": 245, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097118", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S245", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151907159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151907159" }, { "id": "rs2151907159", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151907159" } ], "glycoeffect": [], "start_pos": 2460, "end_pos": 2460, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061509", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2460", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs544370772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544370772" }, { "id": "rs544370772", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544370772" }, { "id": "rs544370772", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544370772" }, { "id": "rs544370772", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs544370772#frequency_tab" }, { "id": "rs544370772", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544370772" } ], "glycoeffect": [], "start_pos": 2460, "end_pos": 2460, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061511", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2460", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs573923194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573923194" }, { "id": "rs573923194", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs573923194" }, { "id": "rs573923194", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs573923194" } ], "glycoeffect": [], "start_pos": 2461, "end_pos": 2461, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061508", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2461", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs373402661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373402661" }, { "id": "rs373402661", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373402661" }, { "id": "rs373402661", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373402661#frequency_tab" }, { "id": "rs373402661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373402661" } ], "glycoeffect": [], "start_pos": 2463, "end_pos": 2463, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061502", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0", "site_lbl": "E2463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2464, "end_pos": 2464, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061498", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V2464", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2465, "end_pos": 2465, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061495", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2465", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1778006217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778006217" }, { "id": "rs1778006217", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1778006217" } ], "glycoeffect": [], "start_pos": 2466, "end_pos": 2466, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061492", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2466", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs369070722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369070722" }, { "id": "rs369070722", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369070722" }, { "id": "rs369070722", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369070722#frequency_tab" }, { "id": "rs369070722", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369070722" } ], "glycoeffect": [], "start_pos": 2466, "end_pos": 2466, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061493", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V2466", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs369070722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369070722" }, { "id": "rs369070722", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369070722" }, { "id": "rs369070722", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369070722#frequency_tab" }, { "id": "rs369070722", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369070722" } ], "glycoeffect": [], "start_pos": 2466, "end_pos": 2466, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061493", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2466", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2483508605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483508605" } ], "glycoeffect": [], "start_pos": 2467, "end_pos": 2467, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061489", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2467", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs765865300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765865300" }, { "id": "rs765865300", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765865300" }, { "id": "rs765865300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765865300" } ], "glycoeffect": [], "start_pos": 2467, "end_pos": 2467, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061490", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2467", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765865300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765865300" }, { "id": "rs765865300", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765865300" }, { "id": "rs765865300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765865300" } ], "glycoeffect": [], "start_pos": 2467, "end_pos": 2467, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061490", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2467", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760229156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760229156" }, { "id": "rs760229156", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760229156" }, { "id": "rs760229156", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760229156" } ], "glycoeffect": [], "start_pos": 2468, "end_pos": 2468, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061487", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2468", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs894516039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs894516039" }, { "id": "rs894516039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs894516039#frequency_tab" }, { "id": "rs894516039", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs894516039" }, { "id": "rs894516039", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs894516039" } ], "glycoeffect": [], "start_pos": 2468, "end_pos": 2468, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061486", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2468", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1260429557", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260429557" }, { "id": "rs1260429557", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260429557" } ], "glycoeffect": [], "start_pos": 2469, "end_pos": 2469, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061483", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2470, "end_pos": 2470, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061481", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2470", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1049048642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1049048642" }, { "id": "rs1049048642", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1049048642#frequency_tab" } ], "glycoeffect": [], "start_pos": 2471, "end_pos": 2471, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061478", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2151907097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151907097" }, { "id": "rs2151907097", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151907097" } ], "glycoeffect": [], "start_pos": 2472, "end_pos": 2472, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061474", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2472", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs373029180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373029180" }, { "id": "rs373029180", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373029180" }, { "id": "rs373029180", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373029180" }, { "id": "rs373029180", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373029180#frequency_tab" }, { "id": "rs373029180", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373029180" }, { "id": "rs373029180", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373029180" } ], "glycoeffect": [], "start_pos": 2473, "end_pos": 2473, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061472", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2473", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs774735083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774735083" }, { "id": "rs774735083", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774735083" }, { "id": "rs774735083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774735083#frequency_tab" }, { "id": "rs774735083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774735083" }, { "id": "rs774735083", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774735083" } ], "glycoeffect": [], "start_pos": 2473, "end_pos": 2473, "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061471", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2473", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs774735083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774735083" }, { "id": "rs774735083", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774735083" }, { "id": "rs774735083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774735083#frequency_tab" }, { "id": "rs774735083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774735083" } ], "glycoeffect": [], "start_pos": 2473, "end_pos": 2473, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061471", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2473", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483508187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483508187" } ], "glycoeffect": [], "start_pos": 2476, "end_pos": 2476, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061461", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2476", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1253378189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253378189" }, { "id": "rs1253378189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253378189" } ], "glycoeffect": [], "start_pos": 2476, "end_pos": 2476, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061462", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2476", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1253378189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253378189" }, { "id": "rs1253378189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253378189" } ], "glycoeffect": [], "start_pos": 2476, "end_pos": 2476, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061462", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2476", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1228442439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228442439" }, { "id": "rs1228442439", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228442439" } ], "glycoeffect": [], "start_pos": 2477, "end_pos": 2477, "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061459", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2477", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1404935942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404935942" }, { "id": "rs1404935942", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1404935942#frequency_tab" }, { "id": "rs1404935942", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1404935942" } ], "glycoeffect": [], "start_pos": 2478, "end_pos": 2478, "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061457", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2478", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151907072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151907072" }, { "id": "rs2151907072", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151907072" } ], "glycoeffect": [], "start_pos": 2478, "end_pos": 2478, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061456", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2478", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1276416197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276416197" }, { "id": "rs1276416197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276416197" } ], "glycoeffect": [], "start_pos": 2479, "end_pos": 2479, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061454", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2479", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1276416197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276416197" }, { "id": "rs1276416197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276416197" } ], "glycoeffect": [], "start_pos": 2479, "end_pos": 2479, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061454", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2479", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs778545044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778545044" }, { "id": "rs778545044", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778545044" }, { "id": "rs778545044", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778545044" } ], "glycoeffect": [], "start_pos": 247, "end_pos": 247, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097114", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R247", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs754729554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754729554" }, { "id": "rs754729554", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754729554" }, { "id": "rs754729554", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754729554#frequency_tab" }, { "id": "rs754729554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754729554" } ], "glycoeffect": [], "start_pos": 247, "end_pos": 247, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097113", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754729554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754729554" }, { "id": "rs754729554", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754729554" }, { "id": "rs754729554", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754729554#frequency_tab" }, { "id": "rs754729554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754729554" } ], "glycoeffect": [], "start_pos": 247, "end_pos": 247, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097113", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs204887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs204887" }, { "id": "rs204887", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs204887" }, { "id": "rs204887", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs204887" }, { "id": "rs204887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs204887#frequency_tab" }, { "id": "rs204887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs204887" }, { "id": "rs2151907055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151907055" }, { "id": "rs2151907055", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151907055" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2480, "end_pos": 2480, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061449", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2480", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778000174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778000174" }, { "id": "rs1778000174", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778000174#frequency_tab" } ], "glycoeffect": [], "start_pos": 2481, "end_pos": 2481, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061447", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2481", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1356060018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356060018" }, { "id": "rs1356060018", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356060018" } ], "glycoeffect": [], "start_pos": 2481, "end_pos": 2481, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061448", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2481", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs769844119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769844119" }, { "id": "rs769844119", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769844119" }, { "id": "rs769844119", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769844119#frequency_tab" }, { "id": "rs769844119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769844119" }, { "id": "rs769844119", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769844119" } ], "glycoeffect": [], "start_pos": 2483, "end_pos": 2483, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061442", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H2483", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs781087189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781087189" }, { "id": "rs781087189", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781087189" }, { "id": "rs781087189", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781087189" } ], "glycoeffect": [], "start_pos": 2484, "end_pos": 2484, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061439", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2484", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2485, "end_pos": 2485, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061436", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2485", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs752650618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752650618" }, { "id": "rs752650618", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752650618" }, { "id": "rs752650618", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752650618#frequency_tab" }, { "id": "rs752650618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752650618" } ], "glycoeffect": [], "start_pos": 2486, "end_pos": 2486, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061433", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2486", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201546972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201546972" }, { "id": "rs201546972", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201546972" }, { "id": "rs201546972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201546972#frequency_tab" }, { "id": "rs201546972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201546972" }, { "id": "rs201546972", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201546972" } ], "glycoeffect": [], "start_pos": 2486, "end_pos": 2486, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061432", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2486", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs747880757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747880757" }, { "id": "rs747880757", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747880757" }, { "id": "rs747880757", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747880757#frequency_tab" }, { "id": "rs747880757", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747880757" }, { "id": "rs747880757", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747880757" } ], "glycoeffect": [], "start_pos": 2487, "end_pos": 2487, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061430", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2487", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs747880757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747880757" }, { "id": "rs747880757", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747880757" }, { "id": "rs747880757", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747880757#frequency_tab" }, { "id": "rs747880757", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747880757" } ], "glycoeffect": [], "start_pos": 2487, "end_pos": 2487, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061430", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2487", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753501465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753501465" }, { "id": "rs753501465", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753501465" }, { "id": "rs753501465", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753501465#frequency_tab" }, { "id": "rs753501465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753501465" } ], "glycoeffect": [], "start_pos": 2487, "end_pos": 2487, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061429", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2487", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376140750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376140750" }, { "id": "rs376140750", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376140750" }, { "id": "rs376140750", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376140750#frequency_tab" }, { "id": "rs376140750", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376140750" } ], "glycoeffect": [], "start_pos": 2488, "end_pos": 2488, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061427", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2488", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376140750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376140750" }, { "id": "rs376140750", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376140750" }, { "id": "rs376140750", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376140750#frequency_tab" }, { "id": "rs376140750", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376140750" } ], "glycoeffect": [], "start_pos": 2488, "end_pos": 2488, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061427", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2488", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1379046673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379046673" }, { "id": "rs1379046673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379046673" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 248, "end_pos": 248, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097110", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S248", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs766981650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766981650" }, { "id": "rs766981650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766981650" }, { "id": "rs766981650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766981650" }, { "id": "rs766981650", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766981650" } ], "glycoeffect": [], "start_pos": 2490, "end_pos": 2490, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061420", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2490", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs774822987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774822987" }, { "id": "rs774822987", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774822987" }, { "id": "rs774822987", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774822987#frequency_tab" }, { "id": "rs774822987", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774822987" } ], "glycoeffect": [], "start_pos": 2491, "end_pos": 2491, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061418", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2491", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151906975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151906975" }, { "id": "rs2151906975", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151906975" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2492, "end_pos": 2492, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061414", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2492", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777996238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777996238" }, { "id": "rs1777996238", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777996238#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2493, "end_pos": 2493, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061412", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2493", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376551751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376551751" }, { "id": "rs376551751", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376551751" }, { "id": "rs376551751", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376551751#frequency_tab" }, { "id": "rs376551751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376551751" } ], "glycoeffect": [], "start_pos": 2494, "end_pos": 2494, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061409", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2494", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2269429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2269429" }, { "id": "rs2269429", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2269429" }, { "id": "rs2269429", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2269429" }, { "id": "rs2269429", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2269429#frequency_tab" }, { "id": "rs2269429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2269429" } ], "glycoeffect": [], "start_pos": 2495, "end_pos": 2495, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061406", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2495", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2269429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2269429" }, { "id": "rs2269429", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2269429" }, { "id": "rs2269429", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2269429" }, { "id": "rs2269429", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2269429#frequency_tab" }, { "id": "rs2269429", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2269429" }, { "id": "rs2269429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2269429" } ], "glycoeffect": [], "start_pos": 2495, "end_pos": 2495, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061406", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2495", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1235274044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235274044" }, { "id": "rs1235274044", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235274044" } ], "glycoeffect": [], "start_pos": 2495, "end_pos": 2495, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32061405", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2495", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs182362312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182362312" }, { "id": "rs182362312", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182362312" }, { "id": "rs182362312", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182362312" }, { "id": "rs182362312", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs182362312#frequency_tab" }, { "id": "rs182362312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs182362312" }, { "id": "rs182362312", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182362312" } ], "glycoeffect": [], "start_pos": 2496, "end_pos": 2496, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32061403", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2496", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1280044615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280044615" }, { "id": "rs1280044615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280044615" } ], "glycoeffect": [], "start_pos": 2498, "end_pos": 2498, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058390", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280044615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280044615" } ], "glycoeffect": [], "start_pos": 2498, "end_pos": 2498, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058390", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748882333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748882333" }, { "id": "rs748882333", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748882333" }, { "id": "rs748882333", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748882333" } ], "glycoeffect": [], "start_pos": 249, "end_pos": 249, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097108", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1421166281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421166281" }, { "id": "rs1421166281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421166281" } ], "glycoeffect": [], "start_pos": 24, "end_pos": 24, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098128", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G24", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777811022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777811022" }, { "id": "rs1777811022", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777811022" } ], "glycoeffect": [], "start_pos": 2500, "end_pos": 2500, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058383", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1274678608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274678608" }, { "id": "rs1274678608", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1274678608#frequency_tab" }, { "id": "rs1274678608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274678608" }, { "id": "rs1274678608", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1274678608" } ], "glycoeffect": [], "start_pos": 2501, "end_pos": 2501, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058382", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2501", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2502, "end_pos": 2502, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058379", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2502", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2151904095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151904095" }, { "id": "rs2151904095", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151904095" } ], "glycoeffect": [], "start_pos": 2503, "end_pos": 2503, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058376", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2503", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1456270341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1456270341" }, { "id": "rs1456270341", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1456270341#frequency_tab" }, { "id": "rs1456270341", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1456270341" } ], "glycoeffect": [], "start_pos": 2504, "end_pos": 2504, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058372", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2504", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61731831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61731831" }, { "id": "rs61731831", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61731831" }, { "id": "rs61731831", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61731831#frequency_tab" }, { "id": "rs61731831", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61731831" } ], "glycoeffect": [], "start_pos": 2505, "end_pos": 2505, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058370", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61731831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61731831" } ], "glycoeffect": [], "start_pos": 2505, "end_pos": 2505, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058370", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2506, "end_pos": 2506, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058367", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T2506", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs763322935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763322935" }, { "id": "rs763322935", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763322935" }, { "id": "rs763322935", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763322935" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2506, "end_pos": 2506, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058366", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2506", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2507, "end_pos": 2507, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058363", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2507", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1481605913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1481605913" }, { "id": "rs1481605913", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1481605913#frequency_tab" } ], "glycoeffect": [], "start_pos": 2507, "end_pos": 2507, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058364", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2507", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2508, "end_pos": 2508, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058360", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S2508", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs999995239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs999995239" }, { "id": "rs999995239", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs999995239#frequency_tab" }, { "id": "rs999995239", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs999995239" } ], "glycoeffect": [], "start_pos": 2509, "end_pos": 2509, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058358", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2509", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780450105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780450105" }, { "id": "rs1780450105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780450105" } ], "glycoeffect": [], "start_pos": 250, "end_pos": 250, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097104", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P250", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755586396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755586396" }, { "id": "rs755586396", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755586396" }, { "id": "rs755586396", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755586396" } ], "glycoeffect": [], "start_pos": 250, "end_pos": 250, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097105", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P250", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2511, "end_pos": 2511, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058352", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2511", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs775958640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775958640" }, { "id": "rs775958640", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775958640" }, { "id": "rs775958640", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775958640#frequency_tab" }, { "id": "rs775958640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775958640" } ], "glycoeffect": [], "start_pos": 2512, "end_pos": 2512, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058349", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P2512", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs775958640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775958640" }, { "id": "rs775958640", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775958640" }, { "id": "rs775958640", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775958640#frequency_tab" }, { "id": "rs775958640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775958640" } ], "glycoeffect": [], "start_pos": 2512, "end_pos": 2512, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058349", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2512", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765490990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765490990" }, { "id": "rs765490990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765490990" }, { "id": "rs765490990", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765490990#frequency_tab" }, { "id": "rs765490990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765490990" } ], "glycoeffect": [], "start_pos": 2513, "end_pos": 2513, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058345", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2513", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1478498254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478498254" }, { "id": "rs1478498254", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478498254#frequency_tab" }, { "id": "rs1478498254", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478498254" } ], "glycoeffect": [], "start_pos": 2516, "end_pos": 2516, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058337", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2516", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1777807183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777807183" }, { "id": "rs1777807183", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777807183#frequency_tab" } ], "glycoeffect": [], "start_pos": 2516, "end_pos": 2516, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058336", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2516", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196910724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196910724" }, { "id": "rs1196910724", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196910724" } ], "glycoeffect": [], "start_pos": 2517, "end_pos": 2517, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058334", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2517", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1009382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009382" }, { "id": "rs1009382", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1009382" }, { "id": "rs1009382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009382" }, { "id": "rs1009382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1009382#frequency_tab" }, { "id": "rs1009382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1009382" } ], "glycoeffect": [], "start_pos": 2518, "end_pos": 2518, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058330", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1009382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009382" }, { "id": "rs1009382", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1009382" }, { "id": "rs1009382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009382" }, { "id": "rs1009382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1009382#frequency_tab" }, { "id": "rs1009382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1009382" }, { "id": "rs1009382", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1009382" } ], "glycoeffect": [], "start_pos": 2518, "end_pos": 2518, "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058330", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2518", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs1286744176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286744176" }, { "id": "rs1286744176", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286744176" } ], "glycoeffect": [], "start_pos": 2518, "end_pos": 2518, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058331", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1009382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009382" }, { "id": "rs1009382", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1009382" }, { "id": "rs1009382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009382" }, { "id": "rs1009382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1009382#frequency_tab" }, { "id": "rs1009382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1009382" } ], "glycoeffect": [], "start_pos": 2518, "end_pos": 2518, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058330", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1414929822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414929822" }, { "id": "rs1414929822", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1414929822#frequency_tab" } ], "glycoeffect": [], "start_pos": 2519, "end_pos": 2519, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058328", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2519", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs920782084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs920782084" }, { "id": "rs920782084", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs920782084#frequency_tab" }, { "id": "rs920782084", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs920782084" } ], "glycoeffect": [], "start_pos": 251, "end_pos": 251, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097102", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1019388787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019388787" }, { "id": "rs1019388787", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1019388787" } ], "glycoeffect": [], "start_pos": 251, "end_pos": 251, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097101", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1019388787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019388787" }, { "id": "rs1019388787", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1019388787" }, { "id": "rs1019388787", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1019388787" } ], "glycoeffect": [], "start_pos": 251, "end_pos": 251, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097101", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R251", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1019388787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019388787" }, { "id": "rs1019388787", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1019388787" } ], "glycoeffect": [], "start_pos": 251, "end_pos": 251, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097101", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1351352122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351352122" }, { "id": "rs1351352122", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351352122" } ], "glycoeffect": [], "start_pos": 2520, "end_pos": 2520, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058325", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2520", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1053476236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1053476236" }, { "id": "rs1053476236", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1053476236#frequency_tab" }, { "id": "rs1053476236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1053476236" }, { "id": "rs1053476236", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1053476236" } ], "glycoeffect": [], "start_pos": 2521, "end_pos": 2521, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058322", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2521", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1053476236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1053476236" } ], "glycoeffect": [], "start_pos": 2521, "end_pos": 2521, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058322", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2521", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1315727172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315727172" }, { "id": "rs1315727172", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1315727172#frequency_tab" } ], "glycoeffect": [], "start_pos": 2523, "end_pos": 2523, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058315", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2523", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs565577555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565577555" }, { "id": "rs565577555", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565577555" }, { "id": "rs565577555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565577555" }, { "id": "rs565577555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565577555" }, { "id": "rs565577555", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565577555" } ], "glycoeffect": [], "start_pos": 2523, "end_pos": 2523, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058316", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P2523", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs565577555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565577555" }, { "id": "rs565577555", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565577555" }, { "id": "rs565577555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565577555" }, { "id": "rs565577555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565577555" } ], "glycoeffect": [], "start_pos": 2523, "end_pos": 2523, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058316", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P2523", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756842285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756842285" }, { "id": "rs756842285", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756842285" }, { "id": "rs756842285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756842285" } ], "glycoeffect": [], "start_pos": 2525, "end_pos": 2525, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058309", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2526, "end_pos": 2526, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058306", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2526", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1174876567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174876567" }, { "id": "rs1174876567", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1174876567#frequency_tab" }, { "id": "rs1174876567", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174876567" }, { "id": "rs1174876567", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1174876567" } ], "glycoeffect": [], "start_pos": 2526, "end_pos": 2526, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058307", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2526", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2527, "end_pos": 2527, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058304", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2527", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs776481464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776481464" }, { "id": "rs776481464", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs776481464" } ], "glycoeffect": [], "start_pos": 2527, "end_pos": 2527, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058304", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2527", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2527, "end_pos": 2527, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058303", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2527", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768034717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768034717" }, { "id": "rs768034717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768034717" }, { "id": "rs768034717", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768034717#frequency_tab" }, { "id": "rs768034717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768034717" } ], "glycoeffect": [], "start_pos": 252, "end_pos": 252, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097098", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768034717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768034717" }, { "id": "rs768034717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768034717" }, { "id": "rs768034717", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768034717#frequency_tab" }, { "id": "rs768034717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768034717" } ], "glycoeffect": [], "start_pos": 252, "end_pos": 252, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097098", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G252", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs1486035606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486035606" }, { "id": "rs1486035606", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1486035606#frequency_tab" }, { "id": "rs1486035606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486035606" } ], "glycoeffect": [], "start_pos": 2530, "end_pos": 2530, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058294", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2530", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1486035606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486035606" }, { "id": "rs1486035606", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1486035606#frequency_tab" }, { "id": "rs1486035606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486035606" } ], "glycoeffect": [], "start_pos": 2530, "end_pos": 2530, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058294", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2530", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2530, "end_pos": 2530, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058295", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V2530", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483487414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483487414" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2531, "end_pos": 2531, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058291", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2531, "end_pos": 2531, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058291", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T2531", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1359147049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359147049" }, { "id": "rs1359147049", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359147049" } ], "glycoeffect": [], "start_pos": 2532, "end_pos": 2532, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058288", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2532", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2532, "end_pos": 2532, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058288", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2532", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1359147049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359147049" }, { "id": "rs1359147049", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359147049" } ], "glycoeffect": [], "start_pos": 2532, "end_pos": 2532, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058288", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2532", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1190200074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190200074" }, { "id": "rs1190200074", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1190200074#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2533, "end_pos": 2533, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058285", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2533", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2533, "end_pos": 2533, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058285", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2533", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2535, "end_pos": 2535, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058280", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P2535", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777799930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777799930" }, { "id": "rs1777799930", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777799930" } ], "glycoeffect": [], "start_pos": 2535, "end_pos": 2535, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058279", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2535", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763558565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763558565" }, { "id": "rs763558565", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763558565" }, { "id": "rs763558565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763558565" } ], "glycoeffect": [], "start_pos": 2536, "end_pos": 2536, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058275", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2536", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1415383257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415383257" }, { "id": "rs1415383257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415383257" }, { "id": "rs1415383257", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1415383257" } ], "glycoeffect": [], "start_pos": 2536, "end_pos": 2536, "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058277", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2536", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs758988241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758988241" }, { "id": "rs758988241", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758988241" }, { "id": "rs758988241", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758988241#frequency_tab" }, { "id": "rs758988241", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758988241" }, { "id": "rs758988241", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758988241" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2537, "end_pos": 2537, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058273", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2537", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1777798686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777798686" }, { "id": "rs1777798686", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777798686#frequency_tab" } ], "glycoeffect": [], "start_pos": 2538, "end_pos": 2538, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058270", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2538", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1192988680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192988680" }, { "id": "rs1192988680", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1192988680#frequency_tab" }, { "id": "rs1192988680", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1192988680" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2539, "end_pos": 2539, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058266", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2539", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780448727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780448727" }, { "id": "rs1780448727", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780448727" } ], "glycoeffect": [], "start_pos": 253, "end_pos": 253, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097096", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2151903875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151903875" }, { "id": "rs2151903875", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151903875" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2541, "end_pos": 2541, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058261", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2541", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs759816493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759816493" }, { "id": "rs759816493", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759816493" }, { "id": "rs759816493", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759816493" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2543, "end_pos": 2543, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058255", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2543", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs538306644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538306644" }, { "id": "rs538306644", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs538306644" }, { "id": "rs538306644", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538306644" }, { "id": "rs538306644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs538306644" } ], "glycoeffect": [], "start_pos": 2544, "end_pos": 2544, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058253", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V2544", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201415015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201415015" }, { "id": "rs201415015", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201415015" }, { "id": "rs201415015", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201415015" }, { "id": "rs201415015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201415015#frequency_tab" }, { "id": "rs201415015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201415015" } ], "glycoeffect": [], "start_pos": 2545, "end_pos": 2545, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058250", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2545", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs749304966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749304966" }, { "id": "rs749304966", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749304966" }, { "id": "rs749304966", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749304966#frequency_tab" }, { "id": "rs749304966", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749304966" } ], "glycoeffect": [], "start_pos": 2545, "end_pos": 2545, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058249", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2545", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs749304966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749304966" }, { "id": "rs749304966", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749304966" }, { "id": "rs749304966", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749304966#frequency_tab" } ], "glycoeffect": [], "start_pos": 2545, "end_pos": 2545, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058249", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2545", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201415015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201415015" }, { "id": "rs201415015", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201415015" }, { "id": "rs201415015", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201415015" }, { "id": "rs201415015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201415015#frequency_tab" }, { "id": "rs201415015", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201415015" }, { "id": "rs201415015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201415015" } ], "glycoeffect": [], "start_pos": 2545, "end_pos": 2545, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058250", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2545", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs201415015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201415015" }, { "id": "rs201415015", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201415015" }, { "id": "rs201415015", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201415015" }, { "id": "rs201415015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201415015#frequency_tab" }, { "id": "rs201415015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201415015" } ], "glycoeffect": [], "start_pos": 2545, "end_pos": 2545, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058250", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2545", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777795776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777795776" }, { "id": "rs1777795776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777795776" } ], "glycoeffect": [], "start_pos": 2546, "end_pos": 2546, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058245", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2546", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1215979713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215979713" }, { "id": "rs1215979713", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1215979713#frequency_tab" }, { "id": "rs1215979713", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215979713" } ], "glycoeffect": [], "start_pos": 2548, "end_pos": 2548, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058241", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2548", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769703381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769703381" }, { "id": "rs769703381", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769703381" }, { "id": "rs769703381", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769703381#frequency_tab" }, { "id": "rs769703381", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769703381" } ], "glycoeffect": [], "start_pos": 2548, "end_pos": 2548, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058240", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2548", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769703381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769703381" }, { "id": "rs769703381", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769703381" }, { "id": "rs769703381", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769703381#frequency_tab" }, { "id": "rs769703381", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769703381" } ], "glycoeffect": [], "start_pos": 2548, "end_pos": 2548, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058240", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2548", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2549, "end_pos": 2549, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058238", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F2549", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1270421635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270421635" } ], "glycoeffect": [], "start_pos": 2549, "end_pos": 2549, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058237", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2549", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1270421635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270421635" }, { "id": "rs1270421635", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1270421635#frequency_tab" } ], "glycoeffect": [], "start_pos": 2549, "end_pos": 2549, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058237", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2549", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757729282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757729282" }, { "id": "rs757729282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757729282" }, { "id": "rs757729282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757729282" }, { "id": "rs757729282", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs757729282" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 254, "end_pos": 254, "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097092", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S254", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1777794464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777794464" }, { "id": "rs1777794464", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777794464" } ], "glycoeffect": [], "start_pos": 2550, "end_pos": 2550, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058233", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2550", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483486554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483486554" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2551, "end_pos": 2551, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058232", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2551", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2551, "end_pos": 2551, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058231", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2551", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1777794043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777794043" }, { "id": "rs1777794043", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777794043" } ], "glycoeffect": [], "start_pos": 2552, "end_pos": 2552, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058229", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F2552", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1339160469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339160469" }, { "id": "rs1339160469", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339160469" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2553, "end_pos": 2553, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058226", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483486456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483486456" } ], "glycoeffect": [], "start_pos": 2553, "end_pos": 2553, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058225", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777317530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777317530" }, { "id": "rs777317530", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777317530" }, { "id": "rs777317530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777317530#frequency_tab" }, { "id": "rs777317530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777317530" } ], "glycoeffect": [], "start_pos": 2554, "end_pos": 2554, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058223", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2554", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777317530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777317530" }, { "id": "rs777317530", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777317530" }, { "id": "rs777317530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777317530#frequency_tab" }, { "id": "rs777317530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777317530" } ], "glycoeffect": [], "start_pos": 2554, "end_pos": 2554, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058223", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2554", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483486325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483486325" } ], "glycoeffect": [], "start_pos": 2555, "end_pos": 2555, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058219", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2555", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2557, "end_pos": 2557, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058214", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K2557", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483486298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483486298" } ], "glycoeffect": [], "start_pos": 2557, "end_pos": 2557, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058214", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2557", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483486263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483486263" } ], "glycoeffect": [], "start_pos": 2558, "end_pos": 2558, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058210", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2558", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2559, "end_pos": 2559, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058207", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2559", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2151903803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151903803" }, { "id": "rs2151903803", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151903803" } ], "glycoeffect": [], "start_pos": 2559, "end_pos": 2559, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058206", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2559", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757834349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757834349" }, { "id": "rs757834349", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757834349" }, { "id": "rs757834349", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757834349" } ], "glycoeffect": [], "start_pos": 2560, "end_pos": 2560, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058205", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2560", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370819172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370819172" }, { "id": "rs370819172", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370819172" }, { "id": "rs370819172", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370819172#frequency_tab" }, { "id": "rs370819172", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370819172" } ], "glycoeffect": [], "start_pos": 2561, "end_pos": 2561, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058202", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200233352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200233352" }, { "id": "rs200233352", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200233352" }, { "id": "rs200233352", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200233352#frequency_tab" }, { "id": "rs200233352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200233352" } ], "glycoeffect": [], "start_pos": 2562, "end_pos": 2562, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058198", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2562", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372988912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372988912" }, { "id": "rs372988912", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372988912" }, { "id": "rs372988912", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372988912#frequency_tab" }, { "id": "rs372988912", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372988912" }, { "id": "rs372988912", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372988912" } ], "glycoeffect": [], "start_pos": 2562, "end_pos": 2562, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058199", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2562", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1777790559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777790559" }, { "id": "rs1777790559", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777790559" } ], "glycoeffect": [], "start_pos": 2563, "end_pos": 2563, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058195", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2563", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs199719197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199719197" }, { "id": "rs199719197", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199719197" }, { "id": "rs199719197", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199719197" }, { "id": "rs199719197", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199719197#frequency_tab" }, { "id": "rs199719197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199719197" } ], "glycoeffect": [], "start_pos": 2565, "end_pos": 2565, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058189", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2565", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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", "germline" ] }, { "evidence": [ { "id": "rs1777789702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777789702" }, { "id": "rs1777789702", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777789702#frequency_tab" } ], "glycoeffect": [], "start_pos": 2566, "end_pos": 2566, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058187", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2566", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777789702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777789702" } ], "glycoeffect": [], "start_pos": 2566, "end_pos": 2566, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058187", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2566", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1206309969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206309969" }, { "id": "rs1206309969", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1206309969#frequency_tab" }, { "id": "rs1206309969", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1206309969" } ], "glycoeffect": [], "start_pos": 2567, "end_pos": 2567, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058184", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2567", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs922286604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs922286604" }, { "id": "rs922286604", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs922286604#frequency_tab" }, { "id": "rs922286604", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs922286604" } ], "glycoeffect": [], "start_pos": 2567, "end_pos": 2567, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058183", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2567", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs922286604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs922286604" }, { "id": "rs922286604", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs922286604#frequency_tab" }, { "id": "rs922286604", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs922286604" } ], "glycoeffect": [], "start_pos": 2567, "end_pos": 2567, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058183", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2567", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196277752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196277752" }, { "id": "rs1196277752", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1196277752#frequency_tab" }, { "id": "rs1196277752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196277752" } ], "glycoeffect": [], "start_pos": 2568, "end_pos": 2568, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058180", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2568", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2569, "end_pos": 2569, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058177", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2569", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs188116087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188116087" }, { "id": "rs188116087", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188116087" }, { "id": "rs188116087", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188116087" }, { "id": "rs188116087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188116087" } ], "glycoeffect": [], "start_pos": 2571, "end_pos": 2571, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058172", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q2571", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1229415564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1229415564" }, { "id": "rs1229415564", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1229415564#frequency_tab" }, { "id": "rs1229415564", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1229415564" } ], "glycoeffect": [], "start_pos": 2571, "end_pos": 2571, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058171", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs975084989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs975084989" }, { "id": "rs975084989", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs975084989#frequency_tab" } ], "glycoeffect": [], "start_pos": 2572, "end_pos": 2572, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058167", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2572", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2572, "end_pos": 2572, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058169", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2572", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs530097220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530097220" }, { "id": "rs530097220", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530097220" }, { "id": "rs530097220", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530097220" }, { "id": "rs530097220", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530097220#frequency_tab" }, { "id": "rs530097220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530097220" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2573, "end_pos": 2573, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058165", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs187409250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs187409250" }, { "id": "rs187409250", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs187409250" }, { "id": "rs187409250", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs187409250" }, { "id": "rs187409250", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs187409250" } ], "glycoeffect": [], "start_pos": 2574, "end_pos": 2574, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058163", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K2574", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2576, "end_pos": 2576, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058156", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2576", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs759431402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759431402" }, { "id": "rs759431402", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759431402" }, { "id": "rs759431402", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759431402" } ], "glycoeffect": [], "start_pos": 2578, "end_pos": 2578, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058151", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2578", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777785887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777785887" }, { "id": "rs1777785887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777785887#frequency_tab" } ], "glycoeffect": [], "start_pos": 2578, "end_pos": 2578, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058150", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2578", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 257, "end_pos": 257, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097084", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G257", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs746725522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746725522" }, { "id": "rs746725522", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746725522" }, { "id": "rs746725522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746725522" } ], "glycoeffect": [], "start_pos": 2582, "end_pos": 2582, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058139", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2582", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201690494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201690494" }, { "id": "rs201690494", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201690494" }, { "id": "rs201690494", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201690494" }, { "id": "rs201690494", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201690494#frequency_tab" }, { "id": "rs201690494", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201690494" }, { "id": "rs201690494", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201690494" } ], "glycoeffect": [], "start_pos": 2584, "end_pos": 2584, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058133", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2584", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs747625465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747625465" }, { "id": "rs747625465", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747625465" }, { "id": "rs747625465", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747625465#frequency_tab" }, { "id": "rs747625465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747625465" } ], "glycoeffect": [], "start_pos": 2584, "end_pos": 2584, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058132", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2584", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747625465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747625465" }, { "id": "rs747625465", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747625465" }, { "id": "rs747625465", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747625465#frequency_tab" }, { "id": "rs747625465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747625465" } ], "glycoeffect": [], "start_pos": 2584, "end_pos": 2584, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058132", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2584", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747625465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747625465" }, { "id": "rs747625465", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747625465" }, { "id": "rs747625465", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747625465#frequency_tab" }, { "id": "rs747625465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747625465" } ], "glycoeffect": [], "start_pos": 2584, "end_pos": 2584, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058132", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2584", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778439193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778439193" }, { "id": "rs778439193", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778439193" }, { "id": "rs778439193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778439193" } ], "glycoeffect": [], "start_pos": 2585, "end_pos": 2585, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058130", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2585", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2585, "end_pos": 2585, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058129", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K2585", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1450140972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450140972" }, { "id": "rs1450140972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1450140972#frequency_tab" } ], "glycoeffect": [], "start_pos": 2587, "end_pos": 2587, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058124", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2587", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754373450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754373450" }, { "id": "rs754373450", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754373450" }, { "id": "rs754373450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754373450" } ], "glycoeffect": [], "start_pos": 2587, "end_pos": 2587, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058122", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2587", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780622544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780622544" }, { "id": "rs780622544", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780622544" }, { "id": "rs780622544", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780622544#frequency_tab" }, { "id": "rs780622544", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780622544" } ], "glycoeffect": [], "start_pos": 2588, "end_pos": 2588, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058121", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2588", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756542674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756542674" }, { "id": "rs756542674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756542674" } ], "glycoeffect": [], "start_pos": 2589, "end_pos": 2589, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058118", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2589", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 258, "end_pos": 258, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043794", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R258", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs764351363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764351363" }, { "id": "rs764351363", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764351363" }, { "id": "rs764351363", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764351363" } ], "glycoeffect": [], "start_pos": 258, "end_pos": 258, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097081", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs202076639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202076639" }, { "id": "rs202076639", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202076639" }, { "id": "rs202076639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202076639" }, { "id": "rs202076639", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202076639" } ], "glycoeffect": [], "start_pos": 258, "end_pos": 258, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097080", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R258", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs202076639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202076639" }, { "id": "rs202076639", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202076639" }, { "id": "rs202076639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202076639" } ], "glycoeffect": [], "start_pos": 258, "end_pos": 258, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097080", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 258, "end_pos": 258, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043793", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R258", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2590, "end_pos": 2590, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058115", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L2590", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2591, "end_pos": 2591, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058111", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y2591", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2591, "end_pos": 2591, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058111", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Y2591", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs767643312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767643312" }, { "id": "rs767643312", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767643312" }, { "id": "rs767643312", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767643312#frequency_tab" }, { "id": "rs767643312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767643312" } ], "glycoeffect": [], "start_pos": 2592, "end_pos": 2592, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058109", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G2592", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs767643312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767643312" }, { "id": "rs767643312", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767643312" }, { "id": "rs767643312", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767643312#frequency_tab" }, { "id": "rs767643312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767643312" }, { "id": "rs767643312", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767643312" } ], "glycoeffect": [], "start_pos": 2592, "end_pos": 2592, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058109", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2592", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1777781275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777781275" }, { "id": "rs1777781275", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777781275#frequency_tab" }, { "id": "rs1777781275", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777781275" } ], "glycoeffect": [], "start_pos": 2593, "end_pos": 2593, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058106", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2593", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1455864332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1455864332" }, { "id": "rs1455864332", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1455864332#frequency_tab" } ], "glycoeffect": [], "start_pos": 2594, "end_pos": 2594, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058102", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2594", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2595, "end_pos": 2595, "subjects_tested": "1773", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058098", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2595", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs374803743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374803743" }, { "id": "rs374803743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374803743" }, { "id": "rs374803743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374803743#frequency_tab" }, { "id": "rs374803743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374803743" } ], "glycoeffect": [], "start_pos": 2595, "end_pos": 2595, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058100", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2595", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs374803743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374803743" }, { "id": "rs374803743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374803743" }, { "id": "rs374803743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374803743#frequency_tab" }, { "id": "rs374803743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374803743" } ], "glycoeffect": [], "start_pos": 2595, "end_pos": 2595, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058100", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2595", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1053418415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1053418415" }, { "id": "rs1053418415", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1053418415#frequency_tab" }, { "id": "rs1053418415", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1053418415" }, { "id": "rs1053418415", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1053418415" } ], "glycoeffect": [], "start_pos": 2595, "end_pos": 2595, "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058099", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2595", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1308908138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308908138" }, { "id": "rs1308908138", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1308908138#frequency_tab" }, { "id": "rs1308908138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308908138" } ], "glycoeffect": [], "start_pos": 2596, "end_pos": 2596, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058096", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1308908138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308908138" }, { "id": "rs1308908138", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1308908138#frequency_tab" }, { "id": "rs1308908138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308908138" } ], "glycoeffect": [], "start_pos": 2596, "end_pos": 2596, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058096", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2066982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2066982" }, { "id": "rs2066982", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2066982" }, { "id": "rs2066982", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2066982" }, { "id": "rs2066982", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2066982#frequency_tab" }, { "id": "rs2066982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2066982" } ], "glycoeffect": [], "start_pos": 2597, "end_pos": 2597, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058093", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2597", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2066982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2066982" }, { "id": "rs2066982", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2066982" }, { "id": "rs2066982", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2066982" }, { "id": "rs2066982", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2066982#frequency_tab" }, { "id": "rs2066982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2066982" }, { "id": "rs2066982", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2066982" } ], "glycoeffect": [], "start_pos": 2597, "end_pos": 2597, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058093", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2597", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs776540292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776540292" }, { "id": "rs776540292", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776540292" }, { "id": "rs776540292", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776540292" } ], "glycoeffect": [], "start_pos": 2597, "end_pos": 2597, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058094", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2597", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773003916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773003916" }, { "id": "rs773003916", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773003916" }, { "id": "rs773003916", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773003916#frequency_tab" }, { "id": "rs773003916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773003916" }, { "id": "rs773003916", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773003916" } ], "glycoeffect": [], "start_pos": 2598, "end_pos": 2598, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058091", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2598", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs771647661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771647661" }, { "id": "rs771647661", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771647661" }, { "id": "rs771647661", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771647661#frequency_tab" }, { "id": "rs771647661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771647661" } ], "glycoeffect": [], "start_pos": 2598, "end_pos": 2598, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058090", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2598", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771647661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771647661" }, { "id": "rs771647661", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771647661" }, { "id": "rs771647661", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771647661#frequency_tab" }, { "id": "rs771647661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771647661" } ], "glycoeffect": [], "start_pos": 2598, "end_pos": 2598, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058090", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2598", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324806963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324806963" }, { "id": "rs1324806963", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1324806963#frequency_tab" }, { "id": "rs1324806963", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1324806963" } ], "glycoeffect": [], "start_pos": 2599, "end_pos": 2599, "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058088", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2599", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1384157566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384157566" }, { "id": "rs1384157566", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384157566#frequency_tab" } ], "glycoeffect": [], "start_pos": 259, "end_pos": 259, "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097078", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C259", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1475344186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475344186" }, { "id": "rs1475344186", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475344186" } ], "glycoeffect": [], "start_pos": 25, "end_pos": 25, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098126", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P25", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1727980854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1727980854" }, { "id": "rs1727980854", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1727980854" } ], "glycoeffect": [], "start_pos": 25, "end_pos": 25, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098125", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P25", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1420162644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420162644" }, { "id": "rs1420162644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420162644" } ], "glycoeffect": [], "start_pos": 2600, "end_pos": 2600, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058085", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2600", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs575866552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575866552" }, { "id": "rs575866552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs575866552" }, { "id": "rs575866552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575866552" }, { "id": "rs575866552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs575866552#frequency_tab" }, { "id": "rs575866552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs575866552" } ], "glycoeffect": [], "start_pos": 2601, "end_pos": 2601, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058081", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00176609", "site_lbl": "P2601", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs575866552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575866552" }, { "id": "rs575866552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs575866552" }, { "id": "rs575866552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575866552" }, { "id": "rs575866552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs575866552#frequency_tab" }, { "id": "rs575866552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs575866552" } ], "glycoeffect": [], "start_pos": 2601, "end_pos": 2601, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058081", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.00176609", "site_lbl": "P2601", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151903517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151903517" }, { "id": "rs2151903517", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151903517" } ], "glycoeffect": [], "start_pos": 2602, "end_pos": 2602, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058078", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2602", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs554433216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554433216" }, { "id": "rs554433216", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554433216" }, { "id": "rs554433216", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554433216" }, { "id": "rs554433216", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs554433216#frequency_tab" }, { "id": "rs554433216", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554433216" } ], "glycoeffect": [], "start_pos": 2602, "end_pos": 2602, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058079", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V2602", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2603, "end_pos": 2603, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058075", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2603", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2604, "end_pos": 2604, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058072", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2604", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1487214702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487214702" }, { "id": "rs1487214702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1487214702" } ], "glycoeffect": [], "start_pos": 2605, "end_pos": 2605, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058069", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2605", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746237539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746237539" }, { "id": "rs746237539", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746237539" }, { "id": "rs746237539", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746237539#frequency_tab" }, { "id": "rs746237539", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746237539" } ], "glycoeffect": [], "start_pos": 2605, "end_pos": 2605, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058070", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2605", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1309384829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309384829" }, { "id": "rs1309384829", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309384829" } ], "glycoeffect": [], "start_pos": 2606, "end_pos": 2606, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058066", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2606", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777775885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777775885" }, { "id": "rs1777775885", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777775885" } ], "glycoeffect": [], "start_pos": 2606, "end_pos": 2606, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058067", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2606", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757463918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757463918" }, { "id": "rs757463918", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757463918" }, { "id": "rs757463918", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757463918#frequency_tab" }, { "id": "rs757463918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757463918" } ], "glycoeffect": [], "start_pos": 2607, "end_pos": 2607, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058064", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757463918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757463918" }, { "id": "rs757463918", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757463918" }, { "id": "rs757463918", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757463918#frequency_tab" }, { "id": "rs757463918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757463918" } ], "glycoeffect": [], "start_pos": 2607, "end_pos": 2607, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058064", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2607", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs1777774937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777774937" }, { "id": "rs1777774937", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777774937" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2608, "end_pos": 2608, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32058061", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2608", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2609, "end_pos": 2609, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32058058", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2609", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2609, "end_pos": 2609, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056903", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2609", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1382745394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382745394" }, { "id": "rs1382745394", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1382745394#frequency_tab" } ], "glycoeffect": [], "start_pos": 260, "end_pos": 260, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097075", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E260", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1245145730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1245145730" }, { "id": "rs1245145730", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1245145730" }, { "id": "rs1245145730", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1245145730" } ], "glycoeffect": [], "start_pos": 260, "end_pos": 260, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097074", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E260", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1231194555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231194555" }, { "id": "rs1231194555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1231194555#frequency_tab" } ], "glycoeffect": [], "start_pos": 2610, "end_pos": 2610, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056900", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2610", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1231194555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231194555" }, { "id": "rs1231194555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1231194555#frequency_tab" } ], "glycoeffect": [], "start_pos": 2610, "end_pos": 2610, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056900", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2610", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483477040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483477040" } ], "glycoeffect": [], "start_pos": 2610, "end_pos": 2610, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056901", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2610", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2610, "end_pos": 2610, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056901", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D2610", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1301945126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301945126" }, { "id": "rs1301945126", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1301945126#frequency_tab" }, { "id": "rs1301945126", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301945126" } ], "glycoeffect": [], "start_pos": 2611, "end_pos": 2611, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056898", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2611", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777691943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777691943" }, { "id": "rs1777691943", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777691943#frequency_tab" } ], "glycoeffect": [], "start_pos": 2612, "end_pos": 2612, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056894", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2612", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750359249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750359249" }, { "id": "rs750359249", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750359249" }, { "id": "rs750359249", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750359249#frequency_tab" }, { "id": "rs750359249", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750359249" } ], "glycoeffect": [], "start_pos": 2613, "end_pos": 2613, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056892", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2613", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2614, "end_pos": 2614, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056889", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2614", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2151902061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151902061" }, { "id": "rs2151902061", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151902061" } ], "glycoeffect": [], "start_pos": 2617, "end_pos": 2617, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056880", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2617", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs183760368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs183760368" }, { "id": "rs183760368", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs183760368" }, { "id": "rs183760368", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs183760368" }, { "id": "rs183760368", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs183760368#frequency_tab" }, { "id": "rs183760368", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs183760368" } ], "glycoeffect": [], "start_pos": 2619, "end_pos": 2619, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056873", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00137363", "site_lbl": "P2619", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ] }, { "evidence": [ { "id": "rs868838853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868838853" } ], "glycoeffect": [], "start_pos": 261, "end_pos": 261, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097072", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780446308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780446308" }, { "id": "rs1780446308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780446308" } ], "glycoeffect": [], "start_pos": 261, "end_pos": 261, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097071", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868838853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868838853" }, { "id": "rs868838853", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs868838853#frequency_tab" } ], "glycoeffect": [], "start_pos": 261, "end_pos": 261, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097072", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2620, "end_pos": 2620, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056870", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2620", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1464255339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464255339" }, { "id": "rs1464255339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1464255339#frequency_tab" }, { "id": "rs1464255339", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464255339" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2620, "end_pos": 2620, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056871", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2620", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1425292732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425292732" }, { "id": "rs1425292732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1425292732" } ], "glycoeffect": [], "start_pos": 2621, "end_pos": 2621, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056866", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2621", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2623, "end_pos": 2623, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056861", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2623", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1204016022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204016022" }, { "id": "rs1204016022", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1204016022#frequency_tab" }, { "id": "rs1204016022", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1204016022" } ], "glycoeffect": [], "start_pos": 2624, "end_pos": 2624, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056858", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2624", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763861508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763861508" }, { "id": "rs763861508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763861508" }, { "id": "rs763861508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763861508" } ], "glycoeffect": [], "start_pos": 2624, "end_pos": 2624, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056859", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2624", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763861508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763861508" }, { "id": "rs763861508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763861508" }, { "id": "rs763861508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763861508" } ], "glycoeffect": [], "start_pos": 2624, "end_pos": 2624, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056859", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2624", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2625, "end_pos": 2625, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056855", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2625", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483476591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483476591" } ], "glycoeffect": [], "start_pos": 2625, "end_pos": 2625, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056856", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2625", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151902012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151902012" }, { "id": "rs2151902012", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151902012" } ], "glycoeffect": [], "start_pos": 2626, "end_pos": 2626, "sequence_org": "P", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056852_32056853delin", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1191672316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191672316" }, { "id": "rs1191672316", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1191672316#frequency_tab" }, { "id": "rs1191672316", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191672316" } ], "glycoeffect": [], "start_pos": 2626, "end_pos": 2626, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056852", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1191672316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191672316" }, { "id": "rs1191672316", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1191672316#frequency_tab" }, { "id": "rs1191672316", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191672316" } ], "glycoeffect": [], "start_pos": 2626, "end_pos": 2626, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056852", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1191672316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191672316" } ], "glycoeffect": [], "start_pos": 2626, "end_pos": 2626, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056852", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1423633697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423633697" }, { "id": "rs1423633697", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1423633697#frequency_tab" }, { "id": "rs1423633697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423633697" } ], "glycoeffect": [], "start_pos": 2626, "end_pos": 2626, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056853", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1257331554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257331554" }, { "id": "rs1257331554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257331554" } ], "glycoeffect": [], "start_pos": 2627, "end_pos": 2627, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056850", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2627", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483476455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483476455" } ], "glycoeffect": [], "start_pos": 2628, "end_pos": 2628, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056847", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2628", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2629, "end_pos": 2629, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056844", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P2629", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs775178393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775178393" }, { "id": "rs775178393", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775178393" }, { "id": "rs775178393", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775178393#frequency_tab" }, { "id": "rs775178393", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775178393" }, { "id": "rs775178393", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775178393" } ], "glycoeffect": [], "start_pos": 2630, "end_pos": 2630, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056841", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2630", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs374865424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374865424" }, { "id": "rs374865424", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374865424" }, { "id": "rs374865424", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374865424" }, { "id": "rs374865424", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374865424#frequency_tab" }, { "id": "rs374865424", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374865424" }, { "id": "rs374865424", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374865424" } ], "glycoeffect": [], "start_pos": 2630, "end_pos": 2630, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056840", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2630", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2632, "end_pos": 2632, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056834", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G2632", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs771275948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771275948" }, { "id": "rs771275948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771275948" }, { "id": "rs771275948", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771275948#frequency_tab" }, { "id": "rs771275948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771275948" } ], "glycoeffect": [], "start_pos": 2632, "end_pos": 2632, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056835", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2632", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2633, "end_pos": 2633, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056832", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2633", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1276316654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276316654" }, { "id": "rs1276316654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276316654" } ], "glycoeffect": [], "start_pos": 2634, "end_pos": 2634, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056828", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2634", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1311796005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311796005" }, { "id": "rs1311796005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1311796005#frequency_tab" }, { "id": "rs1311796005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311796005" } ], "glycoeffect": [], "start_pos": 2636, "end_pos": 2636, "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056822", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2636", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs369180703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369180703" }, { "id": "rs369180703", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369180703" }, { "id": "rs369180703", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369180703" }, { "id": "rs369180703", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369180703#frequency_tab" }, { "id": "rs369180703", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369180703" }, { "id": "rs369180703", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369180703" } ], "glycoeffect": [], "start_pos": 2636, "end_pos": 2636, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056823", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M2636", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2483476085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483476085" } ], "glycoeffect": [], "start_pos": 2639, "end_pos": 2639, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056814", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2639", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1343742795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343742795" }, { "id": "rs1343742795", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1343742795#frequency_tab" }, { "id": "rs1343742795", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1343742795" }, { "id": "rs1343742795", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1343742795" } ], "glycoeffect": [], "start_pos": 263, "end_pos": 263, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097066", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R263", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs371229076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371229076" }, { "id": "rs371229076", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371229076" }, { "id": "rs371229076", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371229076#frequency_tab" }, { "id": "rs371229076", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371229076" } ], "glycoeffect": [], "start_pos": 263, "end_pos": 263, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097065", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R263", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs371229076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371229076" }, { "id": "rs371229076", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371229076" }, { "id": "rs371229076", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371229076#frequency_tab" }, { "id": "rs371229076", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371229076" } ], "glycoeffect": [], "start_pos": 263, "end_pos": 263, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097065", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R263", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2640, "end_pos": 2640, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056811", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T2640", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs778066136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778066136" }, { "id": "rs778066136", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778066136" }, { "id": "rs778066136", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778066136#frequency_tab" }, { "id": "rs778066136", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778066136" } ], "glycoeffect": [], "start_pos": 2640, "end_pos": 2640, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056810", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2640", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2641, "end_pos": 2641, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056808", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2641", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2643, "end_pos": 2643, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056801", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2643", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2643, "end_pos": 2643, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056801", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S2643", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2644, "end_pos": 2644, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056799", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L2644", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs968981994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs968981994" }, { "id": "rs968981994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs968981994#frequency_tab" } ], "glycoeffect": [], "start_pos": 2648, "end_pos": 2648, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056786", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W2648", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200655783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200655783" }, { "id": "rs200655783", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200655783#frequency_tab" }, { "id": "rs200655783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200655783" } ], "glycoeffect": [], "start_pos": 264, "end_pos": 264, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097061", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C264", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2650, "end_pos": 2650, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056781", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V2650", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1777682241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777682241" }, { "id": "rs1777682241", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777682241#frequency_tab" } ], "glycoeffect": [], "start_pos": 2650, "end_pos": 2650, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056781", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2650", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1777681710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777681710" }, { "id": "rs1777681710", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777681710#frequency_tab" }, { "id": "rs1777681710", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777681710" } ], "glycoeffect": [], "start_pos": 2651, "end_pos": 2651, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056778", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2651", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs202211608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202211608" }, { "id": "rs202211608", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202211608" }, { "id": "rs202211608", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202211608" }, { "id": "rs202211608", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202211608#frequency_tab" }, { "id": "rs202211608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202211608" }, { "id": "rs202211608", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202211608" } ], "glycoeffect": [], "start_pos": 2652, "end_pos": 2652, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056775", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2652", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1777680571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777680571" }, { "id": "rs1777680571", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777680571#frequency_tab" }, { "id": "rs1777680571", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777680571" } ], "glycoeffect": [], "start_pos": 2653, "end_pos": 2653, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056771", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2653", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762745727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762745727" }, { "id": "rs762745727", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762745727" }, { "id": "rs762745727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762745727" } ], "glycoeffect": [], "start_pos": 2653, "end_pos": 2653, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056772", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2653", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1271006623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1271006623" }, { "id": "rs1271006623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1271006623" } ], "glycoeffect": [], "start_pos": 2654, "end_pos": 2654, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056767", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2654", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs547693411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547693411" }, { "id": "rs547693411", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs547693411" } ], "glycoeffect": [], "start_pos": 2654, "end_pos": 2654, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056768", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2654", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752386579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752386579" }, { "id": "rs752386579", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752386579" }, { "id": "rs752386579", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752386579#frequency_tab" }, { "id": "rs752386579", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752386579" } ], "glycoeffect": [], "start_pos": 2656, "end_pos": 2656, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056761", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2656", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs192843857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs192843857" }, { "id": "rs192843857", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs192843857" } ], "glycoeffect": [], "start_pos": 265, "end_pos": 265, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097059", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V265", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs973135053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs973135053" } ], "glycoeffect": [], "start_pos": 265, "end_pos": 265, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097060", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V265", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs973135053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs973135053" }, { "id": "rs973135053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs973135053#frequency_tab" }, { "id": "rs973135053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs973135053" } ], "glycoeffect": [], "start_pos": 265, "end_pos": 265, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097060", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V265", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1357029266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357029266" }, { "id": "rs1357029266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1357029266#frequency_tab" }, { "id": "rs1357029266", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1357029266" } ], "glycoeffect": [], "start_pos": 2660, "end_pos": 2660, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056751", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2660", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1264783637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264783637" }, { "id": "rs1264783637", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264783637" } ], "glycoeffect": [], "start_pos": 2663, "end_pos": 2663, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056742", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2663", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1242428292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1242428292" }, { "id": "rs1242428292", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1242428292#frequency_tab" }, { "id": "rs1242428292", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1242428292" } ], "glycoeffect": [], "start_pos": 2664, "end_pos": 2664, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056737", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2664", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2665, "end_pos": 2665, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056735", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G2665", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1035474089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1035474089" }, { "id": "rs1035474089", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1035474089#frequency_tab" } ], "glycoeffect": [], "start_pos": 2665, "end_pos": 2665, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056735", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2665", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1445610177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445610177" }, { "id": "rs1445610177", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445610177" } ], "glycoeffect": [], "start_pos": 2666, "end_pos": 2666, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056731", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2666", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs548879947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs548879947" }, { "id": "rs548879947", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs548879947" }, { "id": "rs548879947", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs548879947" }, { "id": "rs548879947", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs548879947#frequency_tab" }, { "id": "rs548879947", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs548879947" } ], "glycoeffect": [], "start_pos": 2666, "end_pos": 2666, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056733", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2666", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1374150985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374150985" }, { "id": "rs1374150985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374150985" } ], "glycoeffect": [], "start_pos": 2667, "end_pos": 2667, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056730", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2667", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775950850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775950850" }, { "id": "rs775950850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775950850" }, { "id": "rs775950850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775950850#frequency_tab" }, { "id": "rs775950850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775950850" } ], "glycoeffect": [], "start_pos": 2668, "end_pos": 2668, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056727", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2668", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777676178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777676178" }, { "id": "rs1777676178", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777676178" } ], "glycoeffect": [], "start_pos": 2669, "end_pos": 2669, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056723", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2669", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771495067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771495067" }, { "id": "rs771495067", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771495067" }, { "id": "rs771495067", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771495067" } ], "glycoeffect": [], "start_pos": 2669, "end_pos": 2669, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056724", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2669", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772180403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772180403" }, { "id": "rs772180403", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772180403" }, { "id": "rs772180403", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772180403" } ], "glycoeffect": [], "start_pos": 266, "end_pos": 266, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097056", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C266", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1423222730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423222730" }, { "id": "rs1423222730", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1423222730#frequency_tab" }, { "id": "rs1423222730", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423222730" } ], "glycoeffect": [], "start_pos": 2670, "end_pos": 2670, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056721", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2670", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777675729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777675729" }, { "id": "rs1777675729", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777675729" } ], "glycoeffect": [], "start_pos": 2670, "end_pos": 2670, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056720", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2670", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777675484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777675484" }, { "id": "rs1777675484", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777675484#frequency_tab" } ], "glycoeffect": [], "start_pos": 2671, "end_pos": 2671, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056718", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2671", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201037895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201037895" }, { "id": "rs201037895", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201037895" }, { "id": "rs201037895", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201037895#frequency_tab" }, { "id": "rs201037895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201037895" }, { "id": "rs201037895", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201037895" } ], "glycoeffect": [], "start_pos": 2671, "end_pos": 2671, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056717", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2671", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs779108546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779108546" }, { "id": "rs779108546", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779108546" }, { "id": "rs779108546", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779108546#frequency_tab" }, { "id": "rs779108546", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779108546" } ], "glycoeffect": [], "start_pos": 2673, "end_pos": 2673, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056712", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2673", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768698539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768698539" }, { "id": "rs768698539", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768698539" }, { "id": "rs768698539", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768698539#frequency_tab" }, { "id": "rs768698539", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768698539" }, { "id": "rs768698539", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768698539" } ], "glycoeffect": [], "start_pos": 2673, "end_pos": 2673, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056711", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2673", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs779108546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779108546" }, { "id": "rs779108546", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779108546" }, { "id": "rs779108546", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779108546#frequency_tab" }, { "id": "rs779108546", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779108546" } ], "glycoeffect": [], "start_pos": 2673, "end_pos": 2673, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056712", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2673", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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", "germline" ] }, { "evidence": [ { "id": "rs779956827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779956827" }, { "id": "rs779956827", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779956827" }, { "id": "rs779956827", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779956827#frequency_tab" }, { "id": "rs779956827", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779956827" } ], "glycoeffect": [], "start_pos": 2675, "end_pos": 2675, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056705", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151901746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151901746" }, { "id": "rs2151901746", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151901746" } ], "glycoeffect": [], "start_pos": 2676, "end_pos": 2676, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056702", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2676", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751518183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751518183" }, { "id": "rs751518183", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751518183" }, { "id": "rs751518183", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751518183#frequency_tab" }, { "id": "rs751518183", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751518183" } ], "glycoeffect": [], "start_pos": 2677, "end_pos": 2677, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056699", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2677", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs527511337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527511337" }, { "id": "rs527511337", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527511337" }, { "id": "rs527511337", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527511337" }, { "id": "rs527511337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs527511337" }, { "id": "rs527511337", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527511337" } ], "glycoeffect": [], "start_pos": 2678, "end_pos": 2678, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056697", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2678", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs752474552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752474552" }, { "id": "rs752474552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752474552" }, { "id": "rs752474552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752474552#frequency_tab" }, { "id": "rs752474552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752474552" } ], "glycoeffect": [], "start_pos": 2679, "end_pos": 2679, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056693", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2679", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777671856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777671856" }, { "id": "rs1777671856", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777671856" } ], "glycoeffect": [], "start_pos": 2679, "end_pos": 2679, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056694", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2679", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780444325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780444325" }, { "id": "rs1780444325", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780444325#frequency_tab" } ], "glycoeffect": [], "start_pos": 267, "end_pos": 267, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097054", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D267", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780444325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780444325" }, { "id": "rs1780444325", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780444325#frequency_tab" } ], "glycoeffect": [], "start_pos": 267, "end_pos": 267, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097054", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D267", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs759066378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759066378" }, { "id": "rs759066378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759066378" }, { "id": "rs759066378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759066378#frequency_tab" }, { "id": "rs759066378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759066378" }, { "id": "rs759066378", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759066378" } ], "glycoeffect": [], "start_pos": 2680, "end_pos": 2680, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056691", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2680", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs759066378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759066378" }, { "id": "rs759066378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759066378" }, { "id": "rs759066378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759066378#frequency_tab" }, { "id": "rs759066378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759066378" } ], "glycoeffect": [], "start_pos": 2680, "end_pos": 2680, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056691", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2680", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483474842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483474842" } ], "glycoeffect": [], "start_pos": 2681, "end_pos": 2681, "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056687", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2681", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1436666367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1436666367" }, { "id": "rs1436666367", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1436666367" } ], "glycoeffect": [], "start_pos": 2681, "end_pos": 2681, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056688", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2681", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777670616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777670616" }, { "id": "rs1777670616", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777670616#frequency_tab" }, { "id": "rs1777670616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777670616" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2682, "end_pos": 2682, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056685", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2682", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1330015988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330015988" }, { "id": "rs1330015988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330015988" } ], "glycoeffect": [], "start_pos": 2683, "end_pos": 2683, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056682", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2683", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777669871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777669871" }, { "id": "rs1777669871", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777669871" } ], "glycoeffect": [], "start_pos": 2685, "end_pos": 2685, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056676", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2685", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2685, "end_pos": 2685, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056676", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2685", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777669630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777669630" }, { "id": "rs1777669630", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777669630" } ], "glycoeffect": [], "start_pos": 2686, "end_pos": 2686, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056672", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2686", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761221975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761221975" }, { "id": "rs761221975", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761221975" }, { "id": "rs761221975", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761221975#frequency_tab" }, { "id": "rs761221975", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761221975" } ], "glycoeffect": [], "start_pos": 2687, "end_pos": 2687, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056668", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2687", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1299242181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299242181" }, { "id": "rs1299242181", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1299242181#frequency_tab" }, { "id": "rs1299242181", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299242181" } ], "glycoeffect": [], "start_pos": 2688, "end_pos": 2688, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056666", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2688", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355946904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355946904" }, { "id": "rs1355946904", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355946904#frequency_tab" }, { "id": "rs1355946904", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355946904" } ], "glycoeffect": [], "start_pos": 268, "end_pos": 268, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097050", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P268", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777668286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777668286" }, { "id": "rs1777668286", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777668286" } ], "glycoeffect": [], "start_pos": 2690, "end_pos": 2690, "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056661", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2690", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs577711306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577711306" }, { "id": "rs577711306", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577711306" }, { "id": "rs577711306", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577711306" }, { "id": "rs577711306", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577711306" } ], "glycoeffect": [], "start_pos": 2692, "end_pos": 2692, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056654", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2692", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768953393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768953393" }, { "id": "rs768953393", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768953393" }, { "id": "rs768953393", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768953393" } ], "glycoeffect": [], "start_pos": 2693, "end_pos": 2693, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056651", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2693", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2695, "end_pos": 2695, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056644", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N2695", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777667100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777667100" }, { "id": "rs1777667100", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777667100#frequency_tab" } ], "glycoeffect": [], "start_pos": 2695, "end_pos": 2695, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056645", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2695", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1186110424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186110424" }, { "id": "rs1186110424", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186110424#frequency_tab" } ], "glycoeffect": [], "start_pos": 2698, "end_pos": 2698, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056636", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2698", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1241716980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1241716980" }, { "id": "rs1241716980", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1241716980#frequency_tab" }, { "id": "rs1241716980", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1241716980" } ], "glycoeffect": [], "start_pos": 2698, "end_pos": 2698, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056637", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2698", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 269, "end_pos": 269, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097047", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G269", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 269, "end_pos": 269, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097047", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G269", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs367754667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367754667" }, { "id": "rs367754667", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs367754667" }, { "id": "rs367754667", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367754667" }, { "id": "rs367754667", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367754667#frequency_tab" }, { "id": "rs367754667", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367754667" } ], "glycoeffect": [], "start_pos": 2701, "end_pos": 2701, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056628", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0", "site_lbl": "G2701", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2701, "end_pos": 2701, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056627", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2701", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs367754667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367754667" }, { "id": "rs367754667", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs367754667" }, { "id": "rs367754667", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367754667" }, { "id": "rs367754667", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367754667#frequency_tab" }, { "id": "rs367754667", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367754667" } ], "glycoeffect": [], "start_pos": 2701, "end_pos": 2701, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056628", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0", "site_lbl": "G2701", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2702, "end_pos": 2702, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056624", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2702", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777664885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777664885" }, { "id": "rs1777664885", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777664885#frequency_tab" } ], "glycoeffect": [], "start_pos": 2703, "end_pos": 2703, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056620", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2703", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747983319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747983319" }, { "id": "rs747983319", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747983319" }, { "id": "rs747983319", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747983319#frequency_tab" }, { "id": "rs747983319", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747983319" } ], "glycoeffect": [], "start_pos": 2704, "end_pos": 2704, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056619", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2704", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs10947230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs10947230" }, { "id": "rs10947230", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs10947230" }, { "id": "rs10947230", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs10947230" }, { "id": "rs10947230", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs10947230#frequency_tab" }, { "id": "rs10947230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs10947230" }, { "id": "rs10947230", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs10947230" } ], "glycoeffect": [], "start_pos": 2704, "end_pos": 2704, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056618", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2704", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1777663611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777663611" }, { "id": "rs1777663611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777663611#frequency_tab" } ], "glycoeffect": [], "start_pos": 2705, "end_pos": 2705, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056615", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2705", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs544236432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544236432" }, { "id": "rs544236432", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544236432" }, { "id": "rs544236432", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544236432" }, { "id": "rs544236432", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs544236432#frequency_tab" }, { "id": "rs544236432", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544236432" }, { "id": "rs544236432", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544236432" } ], "glycoeffect": [], "start_pos": 2705, "end_pos": 2705, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056616", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2705", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "rs1777662948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777662948" }, { "id": "rs1777662948", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777662948#frequency_tab" }, { "id": "rs1777662948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777662948" } ], "glycoeffect": [], "start_pos": 2706, "end_pos": 2706, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056612", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2706", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1299342475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299342475" }, { "id": "rs1299342475", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1299342475#frequency_tab" }, { "id": "rs1299342475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299342475" } ], "glycoeffect": [], "start_pos": 2706, "end_pos": 2706, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056613", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2706", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777662948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777662948" }, { "id": "rs1777662948", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777662948#frequency_tab" }, { "id": "rs1777662948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777662948" } ], "glycoeffect": [], "start_pos": 2706, "end_pos": 2706, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056612", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2706", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1461935036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461935036" }, { "id": "rs1461935036", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1461935036#frequency_tab" } ], "glycoeffect": [], "start_pos": 2707, "end_pos": 2707, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056609", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2707", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2707, "end_pos": 2707, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056610", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2707", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1343820594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343820594" }, { "id": "rs1343820594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1343820594" } ], "glycoeffect": [], "start_pos": 2707, "end_pos": 2707, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056610", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2707", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777662037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777662037" }, { "id": "rs1777662037", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777662037" }, { "id": "rs1777662037", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777662037" } ], "glycoeffect": [], "start_pos": 2708, "end_pos": 2708, "sequence_org": "I", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056605", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2708", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs573626491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573626491" }, { "id": "rs573626491", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs573626491" } ], "glycoeffect": [], "start_pos": 2708, "end_pos": 2708, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056607", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "I2708", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1336503606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1336503606" }, { "id": "rs1336503606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1336503606" } ], "glycoeffect": [], "start_pos": 2709, "end_pos": 2709, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056604", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2709", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582373258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582373258" }, { "id": "rs1582373258", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582373258" } ], "glycoeffect": [], "start_pos": 2710, "end_pos": 2710, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056600", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2710", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2710, "end_pos": 2710, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056601", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V2710", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs749873337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749873337" }, { "id": "rs749873337", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749873337" }, { "id": "rs749873337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749873337" } ], "glycoeffect": [], "start_pos": 2711, "end_pos": 2711, "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056598", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2711", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs28361051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28361051" }, { "id": "rs28361051", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28361051" }, { "id": "rs28361051", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28361051" }, { "id": "rs28361051", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28361051#frequency_tab" }, { "id": "rs28361051", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28361051" }, { "id": "rs28361051", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28361051" } ], "glycoeffect": [], "start_pos": 2711, "end_pos": 2711, "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32056597", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "0.0028", "site_lbl": "I2711", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs749873337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749873337" }, { "id": "rs749873337", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749873337" }, { "id": "rs749873337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749873337" } ], "glycoeffect": [], "start_pos": 2711, "end_pos": 2711, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056598", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2711", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs536428325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536428325" }, { "id": "rs536428325", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536428325" }, { "id": "rs536428325", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536428325" }, { "id": "rs536428325", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs536428325#frequency_tab" }, { "id": "rs536428325", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536428325" } ], "glycoeffect": [], "start_pos": 2713, "end_pos": 2713, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056592", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V2713", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs536428325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536428325" }, { "id": "rs536428325", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536428325" }, { "id": "rs536428325", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536428325" }, { "id": "rs536428325", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs536428325#frequency_tab" }, { "id": "rs536428325", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536428325" } ], "glycoeffect": [], "start_pos": 2713, "end_pos": 2713, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056592", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V2713", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs764342871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764342871" }, { "id": "rs764342871", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764342871" }, { "id": "rs764342871", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764342871#frequency_tab" }, { "id": "rs764342871", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764342871" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2714, "end_pos": 2714, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056589", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T2714", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1192872355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192872355" }, { "id": "rs1192872355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1192872355#frequency_tab" }, { "id": "rs1192872355", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1192872355" }, { "id": "rs1192872355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1192872355" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2714, "end_pos": 2714, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32056588", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "0.000040", "site_lbl": "T2714", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs764342871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764342871" }, { "id": "rs764342871", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764342871" }, { "id": "rs764342871", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764342871#frequency_tab" }, { "id": "rs764342871", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764342871" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2714, "end_pos": 2714, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056589", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2714", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759796577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759796577" }, { "id": "rs759796577", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759796577" }, { "id": "rs759796577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759796577" } ], "glycoeffect": [], "start_pos": 2715, "end_pos": 2715, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056174", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2715", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763291196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763291196" }, { "id": "rs763291196", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763291196" }, { "id": "rs763291196", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763291196" } ], "glycoeffect": [], "start_pos": 2715, "end_pos": 2715, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056586", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2715", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483470898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483470898" } ], "glycoeffect": [], "start_pos": 2716, "end_pos": 2716, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056172", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2716", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2717, "end_pos": 2717, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056169", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2717", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1472039036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472039036" }, { "id": "rs1472039036", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1472039036#frequency_tab" }, { "id": "rs1472039036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1472039036" } ], "glycoeffect": [], "start_pos": 2717, "end_pos": 2717, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056168", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2717", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs771115433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771115433" }, { "id": "rs771115433", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771115433" }, { "id": "rs771115433", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771115433#frequency_tab" }, { "id": "rs771115433", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771115433" } ], "glycoeffect": [], "start_pos": 2718, "end_pos": 2718, "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056166", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2718", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2719, "end_pos": 2719, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056161", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2719", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs761870425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761870425" }, { "id": "rs761870425", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761870425" }, { "id": "rs761870425", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761870425" } ], "glycoeffect": [], "start_pos": 2719, "end_pos": 2719, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056163", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2719", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780443494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780443494" }, { "id": "rs1780443494", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780443494#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 271, "end_pos": 271, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097041", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780443494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780443494" }, { "id": "rs1780443494", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780443494#frequency_tab" }, { "id": "rs1780443494", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780443494" } ], "glycoeffect": [], "start_pos": 271, "end_pos": 271, "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097041", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T271", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1297727945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297727945" }, { "id": "rs1297727945", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297727945" } ], "glycoeffect": [], "start_pos": 2721, "end_pos": 2721, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056156", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2721", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1297727945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297727945" }, { "id": "rs1297727945", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297727945" } ], "glycoeffect": [], "start_pos": 2721, "end_pos": 2721, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056156", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2721", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2721, "end_pos": 2721, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056157", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2721", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1351611992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351611992" }, { "id": "rs1351611992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351611992" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2722, "end_pos": 2722, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056154", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2722", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2722, "end_pos": 2722, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056153", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2722", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1351611992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351611992" }, { "id": "rs1351611992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351611992" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2722, "end_pos": 2722, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056154", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2722", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777626652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777626652" }, { "id": "rs1777626652", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777626652#frequency_tab" } ], "glycoeffect": [], "start_pos": 2723, "end_pos": 2723, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056151", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2723", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2723, "end_pos": 2723, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056150", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2723", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768579099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768579099" }, { "id": "rs768579099", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768579099" }, { "id": "rs768579099", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768579099#frequency_tab" }, { "id": "rs768579099", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768579099" }, { "id": "rs768579099", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768579099" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2724, "end_pos": 2724, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056147", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2724", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1019210146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019210146" }, { "id": "rs1019210146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1019210146#frequency_tab" }, { "id": "rs1019210146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1019210146" } ], "glycoeffect": [], "start_pos": 2725, "end_pos": 2725, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056143", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2725", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439968007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439968007" }, { "id": "rs1439968007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439968007" } ], "glycoeffect": [], "start_pos": 2726, "end_pos": 2726, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056141", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2726", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1380285446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380285446" }, { "id": "rs1380285446", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1380285446#frequency_tab" }, { "id": "rs1380285446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1380285446" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2728, "end_pos": 2728, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056135", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2728", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151900843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151900843" }, { "id": "rs2151900843", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151900843" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2728, "end_pos": 2728, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056136", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2728", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749055881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749055881" }, { "id": "rs749055881", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749055881" }, { "id": "rs749055881", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749055881#frequency_tab" }, { "id": "rs749055881", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749055881" } ], "glycoeffect": [], "start_pos": 2729, "end_pos": 2729, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056132", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2729", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749055881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749055881" }, { "id": "rs749055881", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749055881" }, { "id": "rs749055881", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749055881#frequency_tab" }, { "id": "rs749055881", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749055881" } ], "glycoeffect": [], "start_pos": 2729, "end_pos": 2729, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056132", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2729", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2151900833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151900833" }, { "id": "rs2151900833", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151900833" } ], "glycoeffect": [], "start_pos": 2729, "end_pos": 2729, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056133", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2729", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867842173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867842173" }, { "id": "rs867842173", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867842173" } ], "glycoeffect": [], "start_pos": 272, "end_pos": 272, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097039", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G272", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748095567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748095567" }, { "id": "rs748095567", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748095567" }, { "id": "rs748095567", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748095567" } ], "glycoeffect": [], "start_pos": 272, "end_pos": 272, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097038", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G272", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2730, "end_pos": 2730, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056129", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2730", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs440160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs440160" }, { "id": "rs440160", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs440160" }, { "id": "rs440160", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs440160" }, { "id": "rs440160", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs440160#frequency_tab" }, { "id": "rs440160", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs440160" } ], "glycoeffect": [], "start_pos": 2731, "end_pos": 2731, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056126", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0437598", "site_lbl": "P2731", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs440160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs440160" }, { "id": "rs440160", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs440160" }, { "id": "rs440160", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs440160" }, { "id": "rs440160", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs440160#frequency_tab" }, { "id": "rs440160", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs440160" } ], "glycoeffect": [], "start_pos": 2731, "end_pos": 2731, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056126", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0437598", "site_lbl": "P2731", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs440160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs440160" }, { "id": "rs440160", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs440160" }, { "id": "rs440160", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs440160" }, { "id": "rs440160", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs440160#frequency_tab" }, { "id": "rs440160", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs440160" } ], "glycoeffect": [], "start_pos": 2731, "end_pos": 2731, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056126", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P2731", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777623648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777623648" }, { "id": "rs1777623648", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777623648" } ], "glycoeffect": [], "start_pos": 2732, "end_pos": 2732, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056123", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2732", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777623648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777623648" }, { "id": "rs1777623648", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777623648" } ], "glycoeffect": [], "start_pos": 2732, "end_pos": 2732, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056123", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2732", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2732, "end_pos": 2732, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056124", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2732", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs200810612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200810612" }, { "id": "rs200810612", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200810612" }, { "id": "rs200810612", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200810612#frequency_tab" }, { "id": "rs200810612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200810612" } ], "glycoeffect": [], "start_pos": 2734, "end_pos": 2734, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056118", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2734", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756754239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756754239" }, { "id": "rs756754239", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756754239" }, { "id": "rs756754239", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756754239" } ], "glycoeffect": [], "start_pos": 2734, "end_pos": 2734, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056117", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2734", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2734, "end_pos": 2734, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056118", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2734", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2735, "end_pos": 2735, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056115", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2735", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs369113595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369113595" }, { "id": "rs369113595", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369113595" }, { "id": "rs369113595", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369113595#frequency_tab" }, { "id": "rs369113595", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369113595" } ], "glycoeffect": [], "start_pos": 2735, "end_pos": 2735, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056114", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2735", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151900777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151900777" }, { "id": "rs2151900777", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151900777" } ], "glycoeffect": [], "start_pos": 2736, "end_pos": 2736, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056112", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2736", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs562786887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562786887" }, { "id": "rs562786887", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562786887" }, { "id": "rs562786887", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562786887" }, { "id": "rs562786887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562786887#frequency_tab" }, { "id": "rs562786887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562786887" } ], "glycoeffect": [], "start_pos": 2737, "end_pos": 2737, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056108", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2737", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs562786887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562786887" }, { "id": "rs562786887", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562786887" }, { "id": "rs562786887", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562786887" }, { "id": "rs562786887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562786887#frequency_tab" }, { "id": "rs562786887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562786887" } ], "glycoeffect": [], "start_pos": 2737, "end_pos": 2737, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056108", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2737", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1470925498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470925498" }, { "id": "rs1470925498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1470925498" } ], "glycoeffect": [], "start_pos": 2737, "end_pos": 2737, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056109", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2737", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777621364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777621364" }, { "id": "rs1777621364", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777621364#frequency_tab" } ], "glycoeffect": [], "start_pos": 2738, "end_pos": 2738, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056106", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2738", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2738, "end_pos": 2738, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056106", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L2738", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs370024421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370024421" }, { "id": "rs370024421", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370024421" }, { "id": "rs370024421", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370024421#frequency_tab" }, { "id": "rs370024421", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370024421" } ], "glycoeffect": [], "start_pos": 273, "end_pos": 273, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097034", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D273", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1294140068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294140068" }, { "id": "rs1294140068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294140068" }, { "id": "rs1294140068", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1294140068" } ], "glycoeffect": [], "start_pos": 2741, "end_pos": 2741, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056097", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2741", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2741, "end_pos": 2741, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056097", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2741", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs754101764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754101764" }, { "id": "rs754101764", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754101764" }, { "id": "rs754101764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754101764" } ], "glycoeffect": [], "start_pos": 2742, "end_pos": 2742, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056093", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2742", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754101764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754101764" }, { "id": "rs754101764", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754101764" }, { "id": "rs754101764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754101764" } ], "glycoeffect": [], "start_pos": 2742, "end_pos": 2742, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056093", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2742", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777619353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777619353" }, { "id": "rs1777619353", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777619353#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2743, "end_pos": 2743, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056091", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2743", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1420070850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420070850" }, { "id": "rs1420070850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420070850" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2743, "end_pos": 2743, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056090", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2743", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs766635580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766635580" }, { "id": "rs766635580", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766635580" }, { "id": "rs766635580", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766635580#frequency_tab" }, { "id": "rs766635580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766635580" } ], "glycoeffect": [], "start_pos": 2746, "end_pos": 2746, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056082", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2746", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2746, "end_pos": 2746, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056081", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2746", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2747, "end_pos": 2747, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056078", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2747", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs760681566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760681566" }, { "id": "rs760681566", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760681566" }, { "id": "rs760681566", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760681566#frequency_tab" }, { "id": "rs760681566", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760681566" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2748, "end_pos": 2748, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056075", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2748", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1434491546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434491546" }, { "id": "rs1434491546", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434491546" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2748, "end_pos": 2748, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056076", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2748", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1190086828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190086828" }, { "id": "rs1190086828", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1190086828" } ], "glycoeffect": [], "start_pos": 2749, "end_pos": 2749, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056073", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2749", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780442053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780442053" }, { "id": "rs1780442053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780442053#frequency_tab" } ], "glycoeffect": [], "start_pos": 274, "end_pos": 274, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097033", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780442053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780442053" }, { "id": "rs1780442053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780442053#frequency_tab" } ], "glycoeffect": [], "start_pos": 274, "end_pos": 274, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097033", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1011215184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011215184" }, { "id": "rs1011215184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1011215184#frequency_tab" }, { "id": "rs1011215184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1011215184" } ], "glycoeffect": [], "start_pos": 274, "end_pos": 274, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097032", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1198167198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198167198" } ], "glycoeffect": [], "start_pos": 274, "end_pos": 274, "sequence_org": "D", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097031GTC", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151900685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151900685" } ], "glycoeffect": [], "start_pos": 2750, "end_pos": 2750, "sequence_org": "D", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056071", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2750", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773291274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773291274" }, { "id": "rs773291274", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773291274" }, { "id": "rs773291274", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773291274#frequency_tab" }, { "id": "rs773291274", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773291274" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2751, "end_pos": 2751, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056066", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2751", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs773291274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773291274" }, { "id": "rs773291274", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773291274" }, { "id": "rs773291274", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773291274#frequency_tab" }, { "id": "rs773291274", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773291274" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2751, "end_pos": 2751, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056066", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2751", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1427067006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427067006" }, { "id": "rs1427067006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427067006" }, { "id": "rs1427067006", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1427067006" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2753, "end_pos": 2753, "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056059", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2753", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1777616672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777616672" }, { "id": "rs1777616672", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777616672#frequency_tab" }, { "id": "rs1777616672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777616672" } ], "glycoeffect": [], "start_pos": 2754, "end_pos": 2754, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056058", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L2754", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs775312191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775312191" }, { "id": "rs775312191", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775312191" }, { "id": "rs775312191", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775312191" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2755, "end_pos": 2755, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056054", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2755", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs769563109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769563109" }, { "id": "rs769563109", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769563109" }, { "id": "rs769563109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769563109" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2757, "end_pos": 2757, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056049", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2757", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780826246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780826246" }, { "id": "rs780826246", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780826246" }, { "id": "rs780826246", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780826246#frequency_tab" }, { "id": "rs780826246", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780826246" } ], "glycoeffect": [], "start_pos": 2758, "end_pos": 2758, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056045", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2758", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770560841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770560841" }, { "id": "rs770560841", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770560841" }, { "id": "rs770560841", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770560841" } ], "glycoeffect": [], "start_pos": 2759, "end_pos": 2759, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056042", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2759", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770560841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770560841" }, { "id": "rs770560841", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770560841" }, { "id": "rs770560841", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770560841" } ], "glycoeffect": [], "start_pos": 2759, "end_pos": 2759, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056042", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2759", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746525428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746525428" } ], "glycoeffect": [], "start_pos": 2760, "end_pos": 2760, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056040", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2760", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2760, "end_pos": 2760, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056038", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q2760", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs746525428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746525428" }, { "id": "rs746525428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746525428" }, { "id": "rs746525428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746525428" } ], "glycoeffect": [], "start_pos": 2760, "end_pos": 2760, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056040", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2760", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280017138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280017138" }, { "id": "rs1280017138", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1280017138#frequency_tab" }, { "id": "rs1280017138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280017138" } ], "glycoeffect": [], "start_pos": 2760, "end_pos": 2760, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056039", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2760", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2761, "end_pos": 2761, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056036", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2761", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs758872866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758872866" }, { "id": "rs758872866", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758872866" }, { "id": "rs758872866", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758872866" }, { "id": "rs758872866", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758872866#frequency_tab" }, { "id": "rs758872866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758872866" } ], "glycoeffect": [], "start_pos": 2762, "end_pos": 2762, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056034", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "H2762", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376978176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376978176" } ], "glycoeffect": [], "start_pos": 2762, "end_pos": 2762, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056033", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2762", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376978176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376978176" }, { "id": "rs376978176", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376978176" }, { "id": "rs376978176", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376978176" }, { "id": "rs376978176", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376978176#frequency_tab" }, { "id": "rs376978176", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376978176" } ], "glycoeffect": [], "start_pos": 2762, "end_pos": 2762, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056033", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2762", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758872866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758872866" }, { "id": "rs758872866", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758872866" }, { "id": "rs758872866", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758872866" }, { "id": "rs758872866", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758872866#frequency_tab" }, { "id": "rs758872866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758872866" } ], "glycoeffect": [], "start_pos": 2762, "end_pos": 2762, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056034", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "H2762", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542131017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542131017" }, { "id": "rs542131017", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542131017" }, { "id": "rs542131017", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542131017" }, { "id": "rs542131017", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542131017#frequency_tab" }, { "id": "rs542131017", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542131017" } ], "glycoeffect": [], "start_pos": 2763, "end_pos": 2763, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056029", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2763", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1202460287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1202460287" }, { "id": "rs1202460287", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1202460287#frequency_tab" }, { "id": "rs1202460287", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1202460287" } ], "glycoeffect": [], "start_pos": 2764, "end_pos": 2764, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056028", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2764", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs916060593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs916060593" }, { "id": "rs916060593", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs916060593#frequency_tab" }, { "id": "rs916060593", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs916060593" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2765, "end_pos": 2765, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056024", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2765", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201649053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201649053" }, { "id": "rs201649053", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201649053" }, { "id": "rs201649053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201649053#frequency_tab" }, { "id": "rs201649053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201649053" }, { "id": "rs201649053", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201649053" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2767, "end_pos": 2767, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056018", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2767", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs750506090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750506090" }, { "id": "rs750506090", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750506090" }, { "id": "rs750506090", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750506090#frequency_tab" }, { "id": "rs750506090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750506090" } ], "glycoeffect": [], "start_pos": 2768, "end_pos": 2768, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056016", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2768", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2769, "end_pos": 2769, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056013", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q2769", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777611113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777611113" }, { "id": "rs1777611113", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777611113" }, { "id": "rs1777611113", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777611113" } ], "glycoeffect": [], "start_pos": 2769, "end_pos": 2769, "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056012", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2769", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1780441632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780441632" }, { "id": "rs1780441632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780441632#frequency_tab" } ], "glycoeffect": [], "start_pos": 276, "end_pos": 276, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097027", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G276", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2770, "end_pos": 2770, "subjects_tested": "4177", "subjects_positive": "5", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32056009", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y2770", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs572852092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572852092" }, { "id": "rs572852092", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572852092" }, { "id": "rs572852092", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572852092" }, { "id": "rs572852092", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572852092#frequency_tab" }, { "id": "rs572852092", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572852092" } ], "glycoeffect": [], "start_pos": 2773, "end_pos": 2773, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056001", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2773", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1484390660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484390660" }, { "id": "rs1484390660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1484390660" } ], "glycoeffect": [], "start_pos": 2773, "end_pos": 2773, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056000", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2773", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs572852092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572852092" }, { "id": "rs572852092", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572852092" }, { "id": "rs572852092", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572852092" }, { "id": "rs572852092", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572852092#frequency_tab" }, { "id": "rs572852092", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572852092" } ], "glycoeffect": [], "start_pos": 2773, "end_pos": 2773, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32056001", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2773", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759341460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759341460" }, { "id": "rs759341460", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759341460" }, { "id": "rs759341460", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759341460#frequency_tab" }, { "id": "rs759341460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759341460" } ], "glycoeffect": [], "start_pos": 2774, "end_pos": 2774, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055997", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2774", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2774, "end_pos": 2774, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055998", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2774", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs770521692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770521692" }, { "id": "rs770521692", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770521692" }, { "id": "rs770521692", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770521692#frequency_tab" }, { "id": "rs770521692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770521692" }, { "id": "rs770521692", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770521692" } ], "glycoeffect": [], "start_pos": 2775, "end_pos": 2775, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055995", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2775", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs770521692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770521692" }, { "id": "rs770521692", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770521692" }, { "id": "rs770521692", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770521692#frequency_tab" }, { "id": "rs770521692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770521692" }, { "id": "rs770521692", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770521692" } ], "glycoeffect": [], "start_pos": 2775, "end_pos": 2775, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055995", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2775", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs771834644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771834644" }, { "id": "rs771834644", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771834644" }, { "id": "rs771834644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771834644#frequency_tab" }, { "id": "rs771834644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771834644" } ], "glycoeffect": [], "start_pos": 2776, "end_pos": 2776, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055992", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2776", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs772650375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772650375" }, { "id": "rs772650375", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772650375" }, { "id": "rs772650375", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772650375" }, { "id": "rs772650375", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772650375" } ], "glycoeffect": [], "start_pos": 2776, "end_pos": 2776, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055991", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2776", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs771834644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771834644" }, { "id": "rs771834644", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771834644" }, { "id": "rs771834644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771834644#frequency_tab" }, { "id": "rs771834644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771834644" }, { "id": "rs771834644", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771834644" } ], "glycoeffect": [], "start_pos": 2776, "end_pos": 2776, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055992", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2776", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs553906021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553906021" }, { "id": "rs553906021", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs553906021" }, { "id": "rs553906021", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553906021" }, { "id": "rs553906021", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs553906021#frequency_tab" }, { "id": "rs553906021", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs553906021" } ], "glycoeffect": [], "start_pos": 2777, "end_pos": 2777, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055988", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P2777", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151900534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151900534" }, { "id": "rs2151900534", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151900534" } ], "glycoeffect": [], "start_pos": 2777, "end_pos": 2777, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055989", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2777", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368240991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368240991" }, { "id": "rs368240991", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368240991" }, { "id": "rs368240991", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368240991" } ], "glycoeffect": [], "start_pos": 2779, "end_pos": 2779, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055982", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2779", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368240991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368240991" }, { "id": "rs368240991", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368240991" }, { "id": "rs368240991", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368240991" } ], "glycoeffect": [], "start_pos": 2779, "end_pos": 2779, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055982", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2779", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs538860553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538860553" }, { "id": "rs538860553", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs538860553" }, { "id": "rs538860553", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538860553" }, { "id": "rs538860553", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs538860553" } ], "glycoeffect": [], "start_pos": 2779, "end_pos": 2779, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055983", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V2779", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780441262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780441262" }, { "id": "rs1780441262", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780441262" }, { "id": "rs1780441262", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780441262" } ], "glycoeffect": [], "start_pos": 277, "end_pos": 277, "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097022", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M277", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs768350934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768350934" }, { "id": "rs768350934", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768350934" }, { "id": "rs768350934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768350934" } ], "glycoeffect": [], "start_pos": 277, "end_pos": 277, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097023", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M277", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 277, "end_pos": 277, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097024", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M277", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs577891773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577891773" }, { "id": "rs577891773", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577891773" }, { "id": "rs577891773", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577891773" }, { "id": "rs577891773", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs577891773#frequency_tab" }, { "id": "rs577891773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577891773" } ], "glycoeffect": [], "start_pos": 2780, "end_pos": 2780, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055980", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "M2780", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372960074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372960074" }, { "id": "rs372960074", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372960074" }, { "id": "rs372960074", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372960074" }, { "id": "rs372960074", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372960074#frequency_tab" }, { "id": "rs372960074", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372960074" } ], "glycoeffect": [], "start_pos": 2781, "end_pos": 2781, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055977", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R2781", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372960074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372960074" }, { "id": "rs372960074", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372960074" }, { "id": "rs372960074", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372960074" }, { "id": "rs372960074", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372960074#frequency_tab" }, { "id": "rs372960074", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372960074" } ], "glycoeffect": [], "start_pos": 2781, "end_pos": 2781, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055977", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R2781", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780530688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780530688" }, { "id": "rs780530688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780530688" }, { "id": "rs780530688", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780530688#frequency_tab" }, { "id": "rs780530688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780530688" } ], "glycoeffect": [], "start_pos": 2781, "end_pos": 2781, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055976", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2781", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750643789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750643789" }, { "id": "rs750643789", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750643789" }, { "id": "rs750643789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750643789" } ], "glycoeffect": [], "start_pos": 2783, "end_pos": 2783, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055971", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2783", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151900474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151900474" }, { "id": "rs2151900474", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151900474" } ], "glycoeffect": [], "start_pos": 2783, "end_pos": 2783, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055970", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2783", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1191563909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191563909" }, { "id": "rs1191563909", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191563909" }, { "id": "rs1191563909", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1191563909" } ], "glycoeffect": [], "start_pos": 2784, "end_pos": 2784, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055968", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2784", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs771584531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771584531" }, { "id": "rs771584531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771584531" }, { "id": "rs771584531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771584531#frequency_tab" }, { "id": "rs771584531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771584531" } ], "glycoeffect": [], "start_pos": 2785, "end_pos": 2785, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055965", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2785", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232047880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232047880" }, { "id": "rs1232047880", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1232047880#frequency_tab" }, { "id": "rs1232047880", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232047880" } ], "glycoeffect": [], "start_pos": 2785, "end_pos": 2785, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055964", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2785", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771584531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771584531" }, { "id": "rs771584531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771584531" }, { "id": "rs771584531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771584531#frequency_tab" }, { "id": "rs771584531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771584531" }, { "id": "rs771584531", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771584531" } ], "glycoeffect": [], "start_pos": 2785, "end_pos": 2785, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055965", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2785", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1256264999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1256264999" }, { "id": "rs1256264999", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1256264999#frequency_tab" }, { "id": "rs1256264999", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1256264999" } ], "glycoeffect": [], "start_pos": 2786, "end_pos": 2786, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055961", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2786", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2786, "end_pos": 2786, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055962", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2786", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1325410858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325410858" }, { "id": "rs1325410858", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1325410858#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2787, "end_pos": 2787, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055958", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2787", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1562802791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562802791" }, { "id": "rs1562802791", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562802791" }, { "id": "rs1562802791", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1562802791" } ], "glycoeffect": [], "start_pos": 2788, "end_pos": 2788, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055956", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2788", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1777602578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777602578" }, { "id": "rs1777602578", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777602578#frequency_tab" } ], "glycoeffect": [], "start_pos": 2789, "end_pos": 2789, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055952", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2789", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777602805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777602805" }, { "id": "rs1777602805", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777602805#frequency_tab" } ], "glycoeffect": [], "start_pos": 2789, "end_pos": 2789, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055953", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2789", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127292646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127292646" }, { "id": "rs2127292646", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127292646" } ], "glycoeffect": [], "start_pos": 278, "end_pos": 278, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097020", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R278", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1582370845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582370845" }, { "id": "rs1582370845", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582370845" }, { "id": "rs1582370845", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1582370845" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2790, "end_pos": 2790, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055949", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2790", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2790, "end_pos": 2790, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055949", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T2790", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs369350764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369350764" }, { "id": "rs369350764", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369350764" }, { "id": "rs369350764", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369350764#frequency_tab" }, { "id": "rs369350764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369350764" } ], "glycoeffect": [], "start_pos": 2791, "end_pos": 2791, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055947", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2791", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369350764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369350764" }, { "id": "rs369350764", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369350764" }, { "id": "rs369350764", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369350764#frequency_tab" }, { "id": "rs369350764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369350764" } ], "glycoeffect": [], "start_pos": 2791, "end_pos": 2791, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055947", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2791", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482520315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482520315" }, { "id": "rs1482520315", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1482520315" } ], "glycoeffect": [], "start_pos": 2792, "end_pos": 2792, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055944", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2792", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760307586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760307586" }, { "id": "rs760307586", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760307586" }, { "id": "rs760307586", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760307586#frequency_tab" }, { "id": "rs760307586", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760307586" } ], "glycoeffect": [], "start_pos": 2793, "end_pos": 2793, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055940", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2793", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760307586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760307586" }, { "id": "rs760307586", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760307586" }, { "id": "rs760307586", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760307586#frequency_tab" }, { "id": "rs760307586", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760307586" } ], "glycoeffect": [], "start_pos": 2793, "end_pos": 2793, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055940", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2793", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2793, "end_pos": 2793, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055941", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2793", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs760307586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760307586" }, { "id": "rs760307586", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760307586" }, { "id": "rs760307586", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760307586#frequency_tab" }, { "id": "rs760307586", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760307586" } ], "glycoeffect": [], "start_pos": 2793, "end_pos": 2793, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055940", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2793", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs537835940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs537835940" }, { "id": "rs537835940", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs537835940" }, { "id": "rs537835940", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs537835940" }, { "id": "rs537835940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs537835940" } ], "glycoeffect": [], "start_pos": 2794, "end_pos": 2794, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055938", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2794", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs537835940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs537835940" }, { "id": "rs537835940", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs537835940" }, { "id": "rs537835940", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs537835940" }, { "id": "rs537835940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs537835940" } ], "glycoeffect": [], "start_pos": 2794, "end_pos": 2794, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055938", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2794", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1450052639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450052639" }, { "id": "rs1450052639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450052639" } ], "glycoeffect": [], "start_pos": 2795, "end_pos": 2795, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055933", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2795", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1011681305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011681305" }, { "id": "rs1011681305", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1011681305#frequency_tab" }, { "id": "rs1011681305", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1011681305" } ], "glycoeffect": [], "start_pos": 2795, "end_pos": 2795, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055935", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2795", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1011681305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011681305" }, { "id": "rs1011681305", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1011681305#frequency_tab" }, { "id": "rs1011681305", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1011681305" } ], "glycoeffect": [], "start_pos": 2795, "end_pos": 2795, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055935", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2795", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747680383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747680383" }, { "id": "rs747680383", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747680383" }, { "id": "rs747680383", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747680383#frequency_tab" }, { "id": "rs747680383", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747680383" } ], "glycoeffect": [], "start_pos": 2797, "end_pos": 2797, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055929", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2797", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773956135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773956135" }, { "id": "rs773956135", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773956135" }, { "id": "rs773956135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773956135" } ], "glycoeffect": [], "start_pos": 2797, "end_pos": 2797, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055928", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2797", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747680383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747680383" }, { "id": "rs747680383", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747680383" }, { "id": "rs747680383", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747680383#frequency_tab" }, { "id": "rs747680383", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747680383" } ], "glycoeffect": [], "start_pos": 2797, "end_pos": 2797, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055929", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2797", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs190411129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190411129" }, { "id": "rs190411129", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs190411129" }, { "id": "rs190411129", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190411129" }, { "id": "rs190411129", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs190411129#frequency_tab" }, { "id": "rs190411129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs190411129" }, { "id": "rs190411129", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs190411129" } ], "glycoeffect": [], "start_pos": 2798, "end_pos": 2798, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055926", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2798", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs372230994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372230994" }, { "id": "rs372230994", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372230994" }, { "id": "rs372230994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372230994#frequency_tab" }, { "id": "rs372230994", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372230994" }, { "id": "rs372230994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372230994" } ], "glycoeffect": [], "start_pos": 2798, "end_pos": 2798, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055925", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2798", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs372230994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372230994" }, { "id": "rs372230994", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372230994" }, { "id": "rs372230994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372230994#frequency_tab" }, { "id": "rs372230994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372230994" } ], "glycoeffect": [], "start_pos": 2798, "end_pos": 2798, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055925", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2798", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs190411129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190411129" }, { "id": "rs190411129", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs190411129" }, { "id": "rs190411129", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190411129" }, { "id": "rs190411129", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs190411129#frequency_tab" }, { "id": "rs190411129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs190411129" } ], "glycoeffect": [], "start_pos": 2798, "end_pos": 2798, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055926", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2798", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1386279155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386279155" }, { "id": "rs1386279155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1386279155#frequency_tab" }, { "id": "rs1386279155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386279155" } ], "glycoeffect": [], "start_pos": 2799, "end_pos": 2799, "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055923", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2799", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483467481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483467481" } ], "glycoeffect": [], "start_pos": 2799, "end_pos": 2799, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055921", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2799", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1386279155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386279155" }, { "id": "rs1386279155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1386279155#frequency_tab" }, { "id": "rs1386279155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386279155" } ], "glycoeffect": [], "start_pos": 2799, "end_pos": 2799, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055923", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2799", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1330206610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330206610" }, { "id": "rs1330206610", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330206610" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 279, "end_pos": 279, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097018", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S279", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780440859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780440859" }, { "id": "rs1780440859", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780440859" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 279, "end_pos": 279, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097017", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S279", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs372058480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372058480" }, { "id": "rs372058480", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372058480" }, { "id": "rs372058480", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372058480#frequency_tab" }, { "id": "rs372058480", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372058480" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 27, "end_pos": 27, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098119", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S27", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1256285075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1256285075" }, { "id": "rs1256285075", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1256285075#frequency_tab" }, { "id": "rs1256285075", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1256285075" } ], "glycoeffect": [], "start_pos": 27, "end_pos": 27, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098120", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S27", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 27, "end_pos": 27, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098119", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S27", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1385796011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385796011" }, { "id": "rs1385796011", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1385796011#frequency_tab" }, { "id": "rs1385796011", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1385796011" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2800, "end_pos": 2800, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055918", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2800", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs746150012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746150012" }, { "id": "rs746150012", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746150012" }, { "id": "rs746150012", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746150012" }, { "id": "rs746150012", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746150012" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2800, "end_pos": 2800, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055919", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y2800", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1443059352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443059352" }, { "id": "rs1443059352", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1443059352#frequency_tab" }, { "id": "rs1443059352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443059352" } ], "glycoeffect": [], "start_pos": 2802, "end_pos": 2802, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055912", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2802", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs998823068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs998823068" }, { "id": "rs998823068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs998823068#frequency_tab" }, { "id": "rs998823068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs998823068" } ], "glycoeffect": [], "start_pos": 2803, "end_pos": 2803, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055911", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2803", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200755718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200755718" }, { "id": "rs200755718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200755718#frequency_tab" }, { "id": "rs200755718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200755718" } ], "glycoeffect": [], "start_pos": 2803, "end_pos": 2803, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055910", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2803", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781489518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781489518" } ], "glycoeffect": [], "start_pos": 2803, "end_pos": 2803, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055909", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2803", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757423974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757423974" }, { "id": "rs757423974", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757423974" }, { "id": "rs757423974", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757423974#frequency_tab" }, { "id": "rs757423974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757423974" } ], "glycoeffect": [], "start_pos": 2804, "end_pos": 2804, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055907", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2804", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151900298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151900298" } ], "glycoeffect": [], "start_pos": 2804, "end_pos": 2804, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055907", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2804", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2805, "end_pos": 2805, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055905", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y2805", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs907188801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs907188801" }, { "id": "rs907188801", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs907188801#frequency_tab" }, { "id": "rs907188801", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs907188801" }, { "id": "rs907188801", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs907188801" } ], "glycoeffect": [], "start_pos": 2806, "end_pos": 2806, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055901", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2806", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1211587427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211587427" }, { "id": "rs1211587427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211587427" } ], "glycoeffect": [], "start_pos": 2806, "end_pos": 2806, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055902", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2806", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs907188801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs907188801" }, { "id": "rs907188801", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs907188801#frequency_tab" }, { "id": "rs907188801", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs907188801" } ], "glycoeffect": [], "start_pos": 2806, "end_pos": 2806, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055901", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2806", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777594740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777594740" }, { "id": "rs1777594740", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777594740#frequency_tab" }, { "id": "rs1777594740", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777594740" } ], "glycoeffect": [], "start_pos": 2808, "end_pos": 2808, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055895", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2808", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1046018971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1046018971" }, { "id": "rs1046018971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1046018971#frequency_tab" }, { "id": "rs1046018971", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1046018971" }, { "id": "rs1046018971", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1046018971" } ], "glycoeffect": [], "start_pos": 2809, "end_pos": 2809, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055893", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2809", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2809, "end_pos": 2809, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055893", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2809", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1421030417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421030417" }, { "id": "rs1421030417", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421030417" } ], "glycoeffect": [], "start_pos": 280, "end_pos": 280, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097014", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C280", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1013566833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1013566833" }, { "id": "rs1013566833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1013566833#frequency_tab" }, { "id": "rs1013566833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1013566833" } ], "glycoeffect": [], "start_pos": 2810, "end_pos": 2810, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055890", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2810", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs200522966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200522966" }, { "id": "rs200522966", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200522966" }, { "id": "rs200522966", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200522966" }, { "id": "rs200522966", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200522966#frequency_tab" }, { "id": "rs200522966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200522966" }, { "id": "rs200522966", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200522966" } ], "glycoeffect": [], "start_pos": 2811, "end_pos": 2811, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055886", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2811", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs377299411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377299411" }, { "id": "rs377299411", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377299411" }, { "id": "rs377299411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377299411#frequency_tab" }, { "id": "rs377299411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377299411" } ], "glycoeffect": [], "start_pos": 2811, "end_pos": 2811, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055887", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2811", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199967634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199967634" }, { "id": "rs199967634", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199967634" }, { "id": "rs199967634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199967634#frequency_tab" }, { "id": "rs199967634", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199967634" } ], "glycoeffect": [], "start_pos": 2812, "end_pos": 2812, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055883", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2812", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199967634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199967634" }, { "id": "rs199967634", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199967634" }, { "id": "rs199967634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199967634#frequency_tab" }, { "id": "rs199967634", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199967634" } ], "glycoeffect": [], "start_pos": 2812, "end_pos": 2812, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055883", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2812", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777591965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777591965" }, { "id": "rs1777591965", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777591965" } ], "glycoeffect": [], "start_pos": 2813, "end_pos": 2813, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055880", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2813", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1366707989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366707989" }, { "id": "rs1366707989", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366707989" } ], "glycoeffect": [], "start_pos": 2813, "end_pos": 2813, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055881", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2813", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767227650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767227650" }, { "id": "rs767227650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767227650" }, { "id": "rs767227650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767227650" } ], "glycoeffect": [], "start_pos": 2815, "end_pos": 2815, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055874", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2815", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774049599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774049599" }, { "id": "rs774049599", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774049599" }, { "id": "rs774049599", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774049599" }, { "id": "rs774049599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774049599" }, { "id": "rs774049599", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774049599" } ], "glycoeffect": [], "start_pos": 2816, "end_pos": 2816, "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055872", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2816", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs774049599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774049599" }, { "id": "rs774049599", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774049599" }, { "id": "rs774049599", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774049599" }, { "id": "rs774049599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774049599" }, { "id": "rs774049599", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774049599" } ], "glycoeffect": [], "start_pos": 2816, "end_pos": 2816, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055872", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2816", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1201054281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201054281" }, { "id": "rs1201054281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201054281" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2818, "end_pos": 2818, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055866", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2818", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202023928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202023928" }, { "id": "rs202023928", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202023928" }, { "id": "rs202023928", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202023928#frequency_tab" }, { "id": "rs202023928", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202023928" } ], "glycoeffect": [], "start_pos": 2819, "end_pos": 2819, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055863", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2819", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202023928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202023928" }, { "id": "rs202023928", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202023928" }, { "id": "rs202023928", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202023928#frequency_tab" }, { "id": "rs202023928", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202023928" } ], "glycoeffect": [], "start_pos": 2819, "end_pos": 2819, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055863", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2819", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749047036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749047036" }, { "id": "rs749047036", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749047036" }, { "id": "rs749047036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749047036" } ], "glycoeffect": [], "start_pos": 281, "end_pos": 281, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097011", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367809743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367809743" }, { "id": "rs367809743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367809743" }, { "id": "rs367809743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367809743#frequency_tab" }, { "id": "rs367809743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367809743" } ], "glycoeffect": [], "start_pos": 2820, "end_pos": 2820, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055860", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2820", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2821, "end_pos": 2821, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32055856", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V2821", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1293532324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293532324" }, { "id": "rs1293532324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293532324#frequency_tab" }, { "id": "rs1293532324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293532324" } ], "glycoeffect": [], "start_pos": 2823, "end_pos": 2823, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32055851", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2823", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777451442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777451442" }, { "id": "rs1777451442", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777451442#frequency_tab" }, { "id": "rs1777451442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777451442" } ], "glycoeffect": [], "start_pos": 2824, "end_pos": 2824, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053709", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2824", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759929653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759929653" }, { "id": "rs759929653", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759929653" }, { "id": "rs759929653", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759929653#frequency_tab" }, { "id": "rs759929653", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759929653" }, { "id": "rs759929653", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759929653" } ], "glycoeffect": [], "start_pos": 2825, "end_pos": 2825, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053706", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2825", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs759929653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759929653" }, { "id": "rs759929653", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759929653" }, { "id": "rs759929653", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759929653#frequency_tab" }, { "id": "rs759929653", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759929653" } ], "glycoeffect": [], "start_pos": 2825, "end_pos": 2825, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053706", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2825", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2826, "end_pos": 2826, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053703", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2826", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2827, "end_pos": 2827, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053700", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2827", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs777104401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777104401" }, { "id": "rs777104401", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777104401" }, { "id": "rs777104401", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777104401#frequency_tab" }, { "id": "rs777104401", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777104401" } ], "glycoeffect": [], "start_pos": 2828, "end_pos": 2828, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053697", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2828", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771273359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771273359" }, { "id": "rs771273359", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771273359" }, { "id": "rs771273359", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771273359#frequency_tab" }, { "id": "rs771273359", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771273359" } ], "glycoeffect": [], "start_pos": 2828, "end_pos": 2828, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053696", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2828", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2829, "end_pos": 2829, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053694", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2829", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780440079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780440079" }, { "id": "rs1780440079", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780440079" } ], "glycoeffect": [], "start_pos": 282, "end_pos": 282, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097009", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562877740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562877740" }, { "id": "rs1562877740", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562877740" } ], "glycoeffect": [], "start_pos": 282, "end_pos": 282, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097008", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1314243411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314243411" }, { "id": "rs1314243411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1314243411#frequency_tab" }, { "id": "rs1314243411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1314243411" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2830, "end_pos": 2830, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053691", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2830", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772227977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772227977" }, { "id": "rs772227977", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772227977" }, { "id": "rs772227977", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772227977" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2831, "end_pos": 2831, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053687", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2831", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772227977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772227977" }, { "id": "rs772227977", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772227977" }, { "id": "rs772227977", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772227977" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2831, "end_pos": 2831, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053687", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2831", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1442863655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442863655" }, { "id": "rs1442863655", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442863655" } ], "glycoeffect": [], "start_pos": 2832, "end_pos": 2832, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053684", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2832", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs917712035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs917712035" }, { "id": "rs917712035", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs917712035#frequency_tab" }, { "id": "rs917712035", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs917712035" } ], "glycoeffect": [], "start_pos": 2834, "end_pos": 2834, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053679", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2834", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs917712035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs917712035" }, { "id": "rs917712035", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs917712035#frequency_tab" }, { "id": "rs917712035", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs917712035" } ], "glycoeffect": [], "start_pos": 2834, "end_pos": 2834, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053679", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2834", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778824629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778824629" }, { "id": "rs778824629", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778824629" } ], "glycoeffect": [], "start_pos": 2835, "end_pos": 2835, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053676", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2835", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1297400932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297400932" }, { "id": "rs1297400932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1297400932#frequency_tab" }, { "id": "rs1297400932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297400932" } ], "glycoeffect": [], "start_pos": 2839, "end_pos": 2839, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053664", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2839", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483454633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483454633" } ], "glycoeffect": [], "start_pos": 2839, "end_pos": 2839, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053662_32053663", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2839", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1419658200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419658200" }, { "id": "rs1419658200", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1419658200#frequency_tab" }, { "id": "rs1419658200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419658200" }, { "id": "rs1419658200", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1419658200" } ], "glycoeffect": [], "start_pos": 283, "end_pos": 283, "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097006", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G283", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1777446675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777446675" }, { "id": "rs1777446675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777446675#frequency_tab" } ], "glycoeffect": [], "start_pos": 2840, "end_pos": 2840, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053661", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2840", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1238928616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238928616" }, { "id": "rs1238928616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238928616" } ], "glycoeffect": [], "start_pos": 2841, "end_pos": 2841, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053658", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2841", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1057524738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057524738" }, { "id": "rs1057524738", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1057524738" } ], "glycoeffect": [], "start_pos": 2842, "end_pos": 2842, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053654", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2842", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1312987963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312987963" }, { "id": "rs1312987963", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312987963#frequency_tab" }, { "id": "rs1312987963", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312987963" } ], "glycoeffect": [], "start_pos": 2843, "end_pos": 2843, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053652", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2843", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756045003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756045003" }, { "id": "rs756045003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756045003" }, { "id": "rs756045003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756045003" } ], "glycoeffect": [], "start_pos": 2843, "end_pos": 2843, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053651", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2843", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756045003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756045003" } ], "glycoeffect": [], "start_pos": 2843, "end_pos": 2843, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053651", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2843", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756045003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756045003" }, { "id": "rs756045003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756045003" }, { "id": "rs756045003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756045003" } ], "glycoeffect": [], "start_pos": 2843, "end_pos": 2843, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053651", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2843", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2844, "end_pos": 2844, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053647", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K2844", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1309845376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309845376" }, { "id": "rs1309845376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309845376" } ], "glycoeffect": [], "start_pos": 2844, "end_pos": 2844, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053648", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2844", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151897643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151897643" }, { "id": "rs2151897643", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151897643" } ], "glycoeffect": [], "start_pos": 2845, "end_pos": 2845, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053645", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2845", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2857010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2857010" }, { "id": "rs2857010", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2857010" }, { "id": "rs2857010", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2857010" }, { "id": "rs2857010", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2857010#frequency_tab" }, { "id": "rs2857010", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2857010" }, { "id": "rs2857010", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2857010" } ], "glycoeffect": [], "start_pos": 2846, "end_pos": 2846, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053643", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2846", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2857010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2857010" }, { "id": "rs2857010", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2857010" }, { "id": "rs2857010", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2857010" }, { "id": "rs2857010", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2857010#frequency_tab" }, { "id": "rs2857010", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2857010" } ], "glycoeffect": [], "start_pos": 2846, "end_pos": 2846, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053643", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2846", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs376203791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376203791" }, { "id": "rs376203791", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376203791" }, { "id": "rs376203791", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376203791#frequency_tab" }, { "id": "rs376203791", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376203791" }, { "id": "rs376203791", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376203791" } ], "glycoeffect": [], "start_pos": 2846, "end_pos": 2846, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053642", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2846", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "rs2857010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2857010" }, { "id": "rs2857010", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2857010" }, { "id": "rs2857010", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2857010" }, { "id": "rs2857010", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2857010#frequency_tab" }, { "id": "rs2857010", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2857010" } ], "glycoeffect": [], "start_pos": 2846, "end_pos": 2846, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053643", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2846", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1470803069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470803069" }, { "id": "rs1470803069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1470803069" } ], "glycoeffect": [], "start_pos": 2847, "end_pos": 2847, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053640", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2847", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2847, "end_pos": 2847, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053640", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L2847", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483454334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483454334" } ], "glycoeffect": [], "start_pos": 2847, "end_pos": 2847, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053639", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2847", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61745355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61745355" }, { "id": "rs61745355", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61745355" }, { "id": "rs61745355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61745355" }, { "id": "rs61745355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61745355#frequency_tab" }, { "id": "rs61745355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61745355" }, { "id": "rs61745355", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61745355" } ], "glycoeffect": [], "start_pos": 2848, "end_pos": 2848, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053637", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2848", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs61745355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61745355" }, { "id": "rs61745355", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61745355" }, { "id": "rs61745355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61745355" }, { "id": "rs61745355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61745355#frequency_tab" }, { "id": "rs61745355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61745355" } ], "glycoeffect": [], "start_pos": 2848, "end_pos": 2848, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053637", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2848", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382274988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382274988" }, { "id": "rs1382274988", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1382274988#frequency_tab" }, { "id": "rs1382274988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382274988" } ], "glycoeffect": [], "start_pos": 2849, "end_pos": 2849, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053634", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2849", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382274988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382274988" }, { "id": "rs1382274988", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1382274988#frequency_tab" }, { "id": "rs1382274988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382274988" } ], "glycoeffect": [], "start_pos": 2849, "end_pos": 2849, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053634", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2849", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777441466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777441466" }, { "id": "rs1777441466", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777441466" } ], "glycoeffect": [], "start_pos": 2850, "end_pos": 2850, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053631", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2850", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2851, "end_pos": 2851, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053627", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2851", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs772317696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772317696" }, { "id": "rs772317696", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772317696" }, { "id": "rs772317696", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772317696#frequency_tab" }, { "id": "rs772317696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772317696" }, { "id": "rs772317696", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772317696" } ], "glycoeffect": [], "start_pos": 2852, "end_pos": 2852, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053625", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2852", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2483453921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483453921" } ], "glycoeffect": [], "start_pos": 2854, "end_pos": 2854, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053618", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2854", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1169669680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1169669680" }, { "id": "rs1169669680", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1169669680" } ], "glycoeffect": [], "start_pos": 2854, "end_pos": 2854, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053619", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2854", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1415732912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415732912" }, { "id": "rs1415732912", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415732912" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2856, "end_pos": 2856, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053612", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2856", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1408093770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408093770" }, { "id": "rs1408093770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408093770" } ], "glycoeffect": [], "start_pos": 2856, "end_pos": 2856, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053613", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2856", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774545672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774545672" }, { "id": "rs774545672", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774545672" }, { "id": "rs774545672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774545672" } ], "glycoeffect": [], "start_pos": 2857, "end_pos": 2857, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053610", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2857", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1777439723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777439723" }, { "id": "rs1777439723", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777439723#frequency_tab" }, { "id": "rs1777439723", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777439723" } ], "glycoeffect": [], "start_pos": 2857, "end_pos": 2857, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053609", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2857", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "rs774545672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774545672" } ], "glycoeffect": [], "start_pos": 2857, "end_pos": 2857, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053610", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2857", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777439205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777439205" }, { "id": "rs1777439205", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777439205#frequency_tab" } ], "glycoeffect": [], "start_pos": 2858, "end_pos": 2858, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053607", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2858", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2859, "end_pos": 2859, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053603", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2859", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780439054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780439054" }, { "id": "rs1780439054", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780439054" }, { "id": "rs1780438871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780438871" }, { "id": "rs1780438871", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780438871" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 285, "end_pos": 285, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097000", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S285", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1424138195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424138195" }, { "id": "rs1424138195", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1424138195#frequency_tab" } ], "glycoeffect": [], "start_pos": 2862, "end_pos": 2862, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053594", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2862", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2864, "end_pos": 2864, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053587", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W2864", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1204471745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204471745" }, { "id": "rs1204471745", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1204471745" } ], "glycoeffect": [], "start_pos": 2865, "end_pos": 2865, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053584", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2865", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373158501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373158501" }, { "id": "rs373158501", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373158501" }, { "id": "rs373158501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373158501" }, { "id": "rs373158501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373158501#frequency_tab" }, { "id": "rs373158501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373158501" } ], "glycoeffect": [], "start_pos": 2865, "end_pos": 2865, "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053585", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00902669", "site_lbl": "M2865", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373158501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373158501" }, { "id": "rs373158501", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373158501" }, { "id": "rs373158501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373158501" }, { "id": "rs373158501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373158501#frequency_tab" }, { "id": "rs373158501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373158501" } ], "glycoeffect": [], "start_pos": 2865, "end_pos": 2865, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053585", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.00902669", "site_lbl": "M2865", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746830728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746830728" }, { "id": "rs746830728", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746830728" }, { "id": "rs746830728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746830728" } ], "glycoeffect": [], "start_pos": 2866, "end_pos": 2866, "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053582", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2866", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1334697428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334697428" }, { "id": "rs1334697428", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1334697428#frequency_tab" }, { "id": "rs1334697428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334697428" } ], "glycoeffect": [], "start_pos": 2866, "end_pos": 2866, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053583", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2866", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2867, "end_pos": 2867, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053579", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2867", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777436830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777436830" }, { "id": "rs1777436830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777436830" } ], "glycoeffect": [], "start_pos": 2867, "end_pos": 2867, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053579", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2867", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2867, "end_pos": 2867, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053580", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2867", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs764870462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764870462" }, { "id": "rs764870462", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764870462" }, { "id": "rs764870462", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764870462#frequency_tab" }, { "id": "rs764870462", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764870462" }, { "id": "rs764870462", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764870462" } ], "glycoeffect": [], "start_pos": 2868, "end_pos": 2868, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053577", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2868", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 286, "end_pos": 286, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096995", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q286", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2151897511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151897511" } ], "glycoeffect": [], "start_pos": 2870, "end_pos": 2870, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053572_32053573i", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2870", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777434408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777434408" }, { "id": "rs1777434408", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777434408" } ], "glycoeffect": [], "start_pos": 2871, "end_pos": 2871, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053568", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2871", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777434181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777434181" } ], "glycoeffect": [], "start_pos": 2871, "end_pos": 2871, "sequence_org": "F", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053568", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2871", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2872, "end_pos": 2872, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053563", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D2872", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1038914847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1038914847" }, { "id": "rs1038914847", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1038914847" } ], "glycoeffect": [], "start_pos": 2872, "end_pos": 2872, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053565", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2872", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766897850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766897850" }, { "id": "rs766897850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766897850" }, { "id": "rs766897850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766897850#frequency_tab" }, { "id": "rs766897850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766897850" } ], "glycoeffect": [], "start_pos": 2873, "end_pos": 2873, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053561", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2873", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2877, "end_pos": 2877, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053550", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q2877", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs773612193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773612193" }, { "id": "rs773612193", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773612193" }, { "id": "rs773612193", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773612193#frequency_tab" }, { "id": "rs773612193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773612193" } ], "glycoeffect": [], "start_pos": 2877, "end_pos": 2877, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053548", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2877", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1777432046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777432046" }, { "id": "rs1777432046", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777432046#frequency_tab" } ], "glycoeffect": [], "start_pos": 2878, "end_pos": 2878, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053546", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2878", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777431801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777431801" }, { "id": "rs1777431801", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777431801" } ], "glycoeffect": [], "start_pos": 2879, "end_pos": 2879, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053544", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2879", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1320494782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320494782" }, { "id": "rs1320494782", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1320494782#frequency_tab" }, { "id": "rs1320494782", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320494782" } ], "glycoeffect": [], "start_pos": 2879, "end_pos": 2879, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053543", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2879", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1320494782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320494782" }, { "id": "rs1320494782", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1320494782#frequency_tab" }, { "id": "rs1320494782", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320494782" } ], "glycoeffect": [], "start_pos": 2879, "end_pos": 2879, "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053543", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2879", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1320494782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320494782" }, { "id": "rs1320494782", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1320494782#frequency_tab" }, { "id": "rs1320494782", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320494782" } ], "glycoeffect": [], "start_pos": 2879, "end_pos": 2879, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053543", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2879", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780438679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780438679" }, { "id": "rs1780438679", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780438679" } ], "glycoeffect": [], "start_pos": 287, "end_pos": 287, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096994", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R287", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1406340228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406340228" }, { "id": "rs1406340228", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1406340228#frequency_tab" }, { "id": "rs1406340228", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406340228" } ], "glycoeffect": [], "start_pos": 287, "end_pos": 287, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096992", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R287", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1363414277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363414277" }, { "id": "rs1363414277", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363414277" } ], "glycoeffect": [], "start_pos": 2880, "end_pos": 2880, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053539", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2880", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2882, "end_pos": 2882, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053534", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D2882", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1039023483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039023483" }, { "id": "rs1039023483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1039023483#frequency_tab" } ], "glycoeffect": [], "start_pos": 2883, "end_pos": 2883, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053531", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2883", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2883, "end_pos": 2883, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053532", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2883", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777430122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777430122" }, { "id": "rs1777430122", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777430122#frequency_tab" } ], "glycoeffect": [], "start_pos": 2884, "end_pos": 2884, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053527", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2884", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2885, "end_pos": 2885, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053525", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2885", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1349985517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349985517" }, { "id": "rs1349985517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349985517" } ], "glycoeffect": [], "start_pos": 2886, "end_pos": 2886, "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053522", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2886", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs187098100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs187098100" }, { "id": "rs187098100", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs187098100" }, { "id": "rs187098100", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs187098100" }, { "id": "rs187098100", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs187098100#frequency_tab" }, { "id": "rs187098100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs187098100" } ], "glycoeffect": [], "start_pos": 2887, "end_pos": 2887, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053519", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V2887", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777428933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777428933" }, { "id": "rs1777428933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777428933" } ], "glycoeffect": [], "start_pos": 2888, "end_pos": 2888, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053517", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2888", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774438735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774438735" }, { "id": "rs774438735", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774438735" }, { "id": "rs774438735", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774438735#frequency_tab" }, { "id": "rs774438735", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774438735" } ], "glycoeffect": [], "start_pos": 2889, "end_pos": 2889, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053514", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2889", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768863607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768863607" }, { "id": "rs768863607", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768863607" }, { "id": "rs768863607", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768863607#frequency_tab" }, { "id": "rs768863607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768863607" } ], "glycoeffect": [], "start_pos": 2889, "end_pos": 2889, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053513", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2889", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768863607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768863607" }, { "id": "rs768863607", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768863607" }, { "id": "rs768863607", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768863607#frequency_tab" }, { "id": "rs768863607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768863607" } ], "glycoeffect": [], "start_pos": 2889, "end_pos": 2889, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053513", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2889", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774438735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774438735" }, { "id": "rs774438735", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774438735" }, { "id": "rs774438735", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774438735#frequency_tab" }, { "id": "rs774438735", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774438735" }, { "id": "rs774438735", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774438735" } ], "glycoeffect": [], "start_pos": 2889, "end_pos": 2889, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053514", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2889", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 288, "end_pos": 288, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096991", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G288", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs879572862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879572862" }, { "id": "rs879572862", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs879572862" } ], "glycoeffect": [], "start_pos": 2890, "end_pos": 2890, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053510", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2890", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2746404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2746404" }, { "id": "rs2746404", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2746404#frequency_tab" } ], "glycoeffect": [], "start_pos": 2890, "end_pos": 2890, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053511", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2890", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2746404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2746404" }, { "id": "rs2746404", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2746404#frequency_tab" } ], "glycoeffect": [], "start_pos": 2890, "end_pos": 2890, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053511", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2890", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749347431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749347431" }, { "id": "rs749347431", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749347431" }, { "id": "rs749347431", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749347431#frequency_tab" }, { "id": "rs749347431", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749347431" } ], "glycoeffect": [], "start_pos": 2891, "end_pos": 2891, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053507", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2891", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749347431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749347431" }, { "id": "rs749347431", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749347431" }, { "id": "rs749347431", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749347431#frequency_tab" }, { "id": "rs749347431", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749347431" } ], "glycoeffect": [], "start_pos": 2891, "end_pos": 2891, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053507", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2891", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369731438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369731438" }, { "id": "rs369731438", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369731438" }, { "id": "rs369731438", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369731438#frequency_tab" }, { "id": "rs369731438", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369731438" } ], "glycoeffect": [], "start_pos": 2892, "end_pos": 2892, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053505", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2892", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs181699780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs181699780" }, { "id": "rs181699780", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs181699780" }, { "id": "rs181699780", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs181699780" }, { "id": "rs181699780", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs181699780#frequency_tab" }, { "id": "rs181699780", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs181699780" } ], "glycoeffect": [], "start_pos": 2894, "end_pos": 2894, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053499", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00490581", "site_lbl": "E2894", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs778446749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778446749" }, { "id": "rs778446749", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778446749" }, { "id": "rs778446749", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778446749#frequency_tab" }, { "id": "rs778446749", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778446749" } ], "glycoeffect": [], "start_pos": 2896, "end_pos": 2896, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053492", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2896", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs572058433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572058433" }, { "id": "rs572058433", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572058433" }, { "id": "rs572058433", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572058433#frequency_tab" }, { "id": "rs572058433", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572058433" } ], "glycoeffect": [], "start_pos": 2896, "end_pos": 2896, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053493", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2896", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778446749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778446749" }, { "id": "rs778446749", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778446749" }, { "id": "rs778446749", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778446749#frequency_tab" }, { "id": "rs778446749", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778446749" } ], "glycoeffect": [], "start_pos": 2896, "end_pos": 2896, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053492", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2896", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs572058433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572058433" }, { "id": "rs572058433", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572058433" }, { "id": "rs572058433", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572058433#frequency_tab" }, { "id": "rs572058433", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572058433" } ], "glycoeffect": [], "start_pos": 2896, "end_pos": 2896, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053493", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2896", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1056246867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1056246867" }, { "id": "rs1056246867", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1056246867#frequency_tab" }, { "id": "rs1056246867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1056246867" } ], "glycoeffect": [], "start_pos": 2897, "end_pos": 2897, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053490", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2897", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2897, "end_pos": 2897, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053490", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2897", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2898, "end_pos": 2898, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053487", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T2898", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1193300219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193300219" }, { "id": "rs1193300219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193300219" } ], "glycoeffect": [], "start_pos": 289, "end_pos": 289, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096988", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R289", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1478555641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478555641" }, { "id": "rs1478555641", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478555641#frequency_tab" }, { "id": "rs1478555641", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478555641" } ], "glycoeffect": [], "start_pos": 289, "end_pos": 289, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096987", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R289", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1478555641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478555641" }, { "id": "rs1478555641", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478555641#frequency_tab" }, { "id": "rs1478555641", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478555641" } ], "glycoeffect": [], "start_pos": 289, "end_pos": 289, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096987", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R289", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753380360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753380360" }, { "id": "rs753380360", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753380360" }, { "id": "rs753380360", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753380360#frequency_tab" }, { "id": "rs753380360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753380360" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2900, "end_pos": 2900, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053480", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2900", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs779513286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779513286" }, { "id": "rs779513286", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779513286" }, { "id": "rs779513286", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779513286" } ], "glycoeffect": [], "start_pos": 2901, "end_pos": 2901, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053477", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2901", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777423238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777423238" }, { "id": "rs1777423238", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777423238#frequency_tab" } ], "glycoeffect": [], "start_pos": 2901, "end_pos": 2901, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053478", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2901", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1157376408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157376408" }, { "id": "rs1157376408", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157376408" } ], "glycoeffect": [], "start_pos": 2902, "end_pos": 2902, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053474", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2902", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1342757861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342757861" }, { "id": "rs1342757861", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1342757861#frequency_tab" } ], "glycoeffect": [], "start_pos": 2903, "end_pos": 2903, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053470", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2903", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1363513422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363513422" }, { "id": "rs1363513422", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363513422" }, { "id": "rs1363513422", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1363513422" } ], "glycoeffect": [], "start_pos": 2903, "end_pos": 2903, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053472", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2903", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1777422086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777422086" }, { "id": "rs1777422086", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777422086" } ], "glycoeffect": [], "start_pos": 2905, "end_pos": 2905, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053464", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2905", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756667030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756667030" } ], "glycoeffect": [], "start_pos": 2906, "end_pos": 2906, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053461", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2906", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777421875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777421875" }, { "id": "rs1777421875", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777421875#frequency_tab" }, { "id": "rs1777421875", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777421875" } ], "glycoeffect": [], "start_pos": 2906, "end_pos": 2906, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053463", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2906", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1344218637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344218637" }, { "id": "rs1344218637", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1344218637#frequency_tab" }, { "id": "rs1344218637", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1344218637" } ], "glycoeffect": [], "start_pos": 2909, "end_pos": 2909, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053454", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2909", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1344218637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344218637" }, { "id": "rs1344218637", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1344218637#frequency_tab" }, { "id": "rs1344218637", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1344218637" } ], "glycoeffect": [], "start_pos": 2909, "end_pos": 2909, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053454", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2909", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372398179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372398179" }, { "id": "rs372398179", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372398179" }, { "id": "rs372398179", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372398179#frequency_tab" }, { "id": "rs372398179", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372398179" }, { "id": "rs372398179", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372398179" } ], "glycoeffect": [], "start_pos": 2909, "end_pos": 2909, "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32053453", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "0.000070", "site_lbl": "K2909", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs762095976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762095976" }, { "id": "rs762095976", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762095976" }, { "id": "rs762095976", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762095976#frequency_tab" }, { "id": "rs762095976", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762095976" } ], "glycoeffect": [], "start_pos": 2911, "end_pos": 2911, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053446", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2911", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751901665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751901665" }, { "id": "rs751901665", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751901665" }, { "id": "rs751901665", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751901665" }, { "id": "rs751901665", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751901665" } ], "glycoeffect": [], "start_pos": 2912, "end_pos": 2912, "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053444", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2912", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2483452165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483452165" } ], "glycoeffect": [], "start_pos": 2912, "end_pos": 2912, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053445", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2912", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151897279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151897279" }, { "id": "rs2151897279", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151897279" } ], "glycoeffect": [], "start_pos": 2914, "end_pos": 2914, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053438", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2914", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2914, "end_pos": 2914, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053439", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2914", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2914, "end_pos": 2914, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053439", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G2914", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs200708257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200708257" }, { "id": "rs200708257", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200708257" }, { "id": "rs200708257", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200708257" }, { "id": "rs200708257", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200708257#frequency_tab" }, { "id": "rs200708257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200708257" } ], "glycoeffect": [], "start_pos": 2914, "end_pos": 2914, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053439", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2914", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775763208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775763208" }, { "id": "rs775763208", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775763208" }, { "id": "rs775763208", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775763208#frequency_tab" }, { "id": "rs775763208", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775763208" }, { "id": "rs775763208", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775763208" } ], "glycoeffect": [], "start_pos": 2916, "end_pos": 2916, "sequence_org": "H", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053431", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2916", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2917, "end_pos": 2917, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053429", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2917", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs61744592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61744592" }, { "id": "rs61744592", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61744592" }, { "id": "rs61744592", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61744592#frequency_tab" }, { "id": "rs61744592", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61744592" } ], "glycoeffect": [], "start_pos": 2917, "end_pos": 2917, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053430", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2917", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs61744592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61744592" }, { "id": "rs61744592", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61744592" }, { "id": "rs61744592", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61744592#frequency_tab" }, { "id": "rs61744592", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61744592" } ], "glycoeffect": [], "start_pos": 2917, "end_pos": 2917, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053430", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2917", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs745422139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745422139" }, { "id": "rs745422139", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745422139" }, { "id": "rs745422139", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745422139" } ], "glycoeffect": [], "start_pos": 291, "end_pos": 291, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096982", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs773287829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773287829" }, { "id": "rs773287829", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773287829" }, { "id": "rs773287829", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773287829" } ], "glycoeffect": [], "start_pos": 2920, "end_pos": 2920, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053421", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2920", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs371669336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371669336" }, { "id": "rs371669336", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371669336" }, { "id": "rs371669336", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371669336#frequency_tab" }, { "id": "rs371669336", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371669336" }, { "id": "rs371669336", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371669336" } ], "glycoeffect": [], "start_pos": 2920, "end_pos": 2920, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053420", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2920", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs529485424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529485424" }, { "id": "rs529485424", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529485424" }, { "id": "rs529485424", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529485424" }, { "id": "rs529485424", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs529485424#frequency_tab" }, { "id": "rs529485424", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529485424" } ], "glycoeffect": [], "start_pos": 2921, "end_pos": 2921, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053418", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2921", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2922, "end_pos": 2922, "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053415", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2922", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748922619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748922619" }, { "id": "rs748922619", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748922619" }, { "id": "rs748922619", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748922619" } ], "glycoeffect": [], "start_pos": 2922, "end_pos": 2922, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053415", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2922", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748096133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748096133" }, { "id": "rs748096133", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs748096133" } ], "glycoeffect": [], "start_pos": 2923, "end_pos": 2923, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053411", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2923", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2923, "end_pos": 2923, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053412", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2923", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777417522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777417522" }, { "id": "rs1777417522", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777417522#frequency_tab" } ], "glycoeffect": [], "start_pos": 2924, "end_pos": 2924, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053408", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2924", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777417522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777417522" }, { "id": "rs1777417522", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777417522#frequency_tab" } ], "glycoeffect": [], "start_pos": 2924, "end_pos": 2924, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053408", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2924", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1362649722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1362649722" }, { "id": "rs1362649722", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1362649722" } ], "glycoeffect": [], "start_pos": 2924, "end_pos": 2924, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053409", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2924", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781570593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781570593" }, { "id": "rs781570593", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781570593" }, { "id": "rs781570593", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781570593#frequency_tab" }, { "id": "rs781570593", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781570593" } ], "glycoeffect": [], "start_pos": 2927, "end_pos": 2927, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053399", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2927", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777416836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777416836" }, { "id": "rs1777416836", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777416836" } ], "glycoeffect": [], "start_pos": 2927, "end_pos": 2927, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053400", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2927", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs143089251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143089251" }, { "id": "rs143089251", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143089251" }, { "id": "rs143089251", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143089251" }, { "id": "rs143089251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143089251" } ], "glycoeffect": [], "start_pos": 2928, "end_pos": 2928, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053396", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2928", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2928, "end_pos": 2928, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053396", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2928", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1363057781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363057781" }, { "id": "rs1363057781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363057781" }, { "id": "rs1363057781", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1363057781" } ], "glycoeffect": [], "start_pos": 292, "end_pos": 292, "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096979", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N292", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1454202941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454202941" }, { "id": "rs1454202941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454202941" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2930, "end_pos": 2930, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32053390", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2930", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2931, "end_pos": 2931, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32053388", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2931", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2932, "end_pos": 2932, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052991", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2932", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs745412250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745412250" }, { "id": "rs745412250", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745412250" }, { "id": "rs745412250", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745412250" }, { "id": "rs745412250", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs745412250" } ], "glycoeffect": [], "start_pos": 2933, "end_pos": 2933, "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052987", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2933", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1777392288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777392288" }, { "id": "rs1777392288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777392288#frequency_tab" }, { "id": "rs1777392288", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777392288" } ], "glycoeffect": [], "start_pos": 2933, "end_pos": 2933, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052988", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2933", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2934, "end_pos": 2934, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052985", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2934", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2935, "end_pos": 2935, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052982", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E2935", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2151896747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151896747" }, { "id": "rs2151896747", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151896747" }, { "id": "rs2151896747", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151896747" } ], "glycoeffect": [], "start_pos": 2937, "end_pos": 2937, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052975", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2937", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2151896750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151896750" }, { "id": "rs2151896750", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151896750" }, { "id": "rs2151896750", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151896750" } ], "glycoeffect": [], "start_pos": 2937, "end_pos": 2937, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052976", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2937", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs780721675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780721675" }, { "id": "rs780721675", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780721675" }, { "id": "rs780721675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780721675" }, { "id": "rs780721675", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780721675" } ], "glycoeffect": [], "start_pos": 2938, "end_pos": 2938, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052973", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2938", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2939, "end_pos": 2939, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052969", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2939", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1252694343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252694343" }, { "id": "rs1252694343", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252694343" } ], "glycoeffect": [], "start_pos": 2939, "end_pos": 2939, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052969", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2939", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780437137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780437137" }, { "id": "rs1780437137", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780437137#frequency_tab" } ], "glycoeffect": [], "start_pos": 293, "end_pos": 293, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096976", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G293", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780437137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780437137" }, { "id": "rs1780437137", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780437137#frequency_tab" } ], "glycoeffect": [], "start_pos": 293, "end_pos": 293, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096976", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G293", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1021277822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1021277822" }, { "id": "rs1021277822", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1021277822#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2940, "end_pos": 2940, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052966", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2940", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1480248990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480248990" }, { "id": "rs1480248990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480248990" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2940, "end_pos": 2940, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052967", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2940", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1021277822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1021277822" }, { "id": "rs1021277822", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1021277822#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2940, "end_pos": 2940, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052966", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2940", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs979496488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs979496488" }, { "id": "rs979496488", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs979496488#frequency_tab" }, { "id": "rs979496488", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs979496488" } ], "glycoeffect": [], "start_pos": 2942, "end_pos": 2942, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052960", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2942", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777389912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777389912" }, { "id": "rs1777389912", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777389912" } ], "glycoeffect": [], "start_pos": 2942, "end_pos": 2942, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052961", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2942", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1337041285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337041285" }, { "id": "rs1337041285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1337041285" } ], "glycoeffect": [], "start_pos": 2945, "end_pos": 2945, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052951", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2945", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777387006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777387006" }, { "id": "rs1777387006", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777387006#frequency_tab" } ], "glycoeffect": [], "start_pos": 2945, "end_pos": 2945, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052950", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2945", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1243248725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243248725" }, { "id": "rs1243248725", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243248725" } ], "glycoeffect": [], "start_pos": 2945, "end_pos": 2945, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052952", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2945", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758839273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758839273" }, { "id": "rs758839273", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758839273" }, { "id": "rs758839273", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758839273" } ], "glycoeffect": [], "start_pos": 2946, "end_pos": 2946, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052948", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2946", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs558453501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558453501" }, { "id": "rs558453501", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs558453501" }, { "id": "rs558453501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558453501" }, { "id": "rs558453501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs558453501#frequency_tab" }, { "id": "rs558453501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs558453501" }, { "id": "rs558453501", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs558453501" } ], "glycoeffect": [], "start_pos": 2947, "end_pos": 2947, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052945", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2947", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2947, "end_pos": 2947, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052945", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2947", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs558453501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558453501" }, { "id": "rs558453501", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs558453501" }, { "id": "rs558453501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558453501" }, { "id": "rs558453501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs558453501#frequency_tab" }, { "id": "rs558453501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs558453501" } ], "glycoeffect": [], "start_pos": 2947, "end_pos": 2947, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052945", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2947", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777384632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777384632" }, { "id": "rs1777384632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777384632#frequency_tab" } ], "glycoeffect": [], "start_pos": 2948, "end_pos": 2948, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052941", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2948", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777384942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777384942" }, { "id": "rs1777384942", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777384942" } ], "glycoeffect": [], "start_pos": 2948, "end_pos": 2948, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052942", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2948", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755214571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755214571" }, { "id": "rs755214571", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755214571" }, { "id": "rs755214571", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755214571#frequency_tab" }, { "id": "rs755214571", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755214571" }, { "id": "rs755214571", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755214571" } ], "glycoeffect": [], "start_pos": 2948, "end_pos": 2948, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32052943", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "0.000002054", "site_lbl": "E2948", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs755214571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755214571" }, { "id": "rs755214571", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755214571" }, { "id": "rs755214571", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755214571#frequency_tab" }, { "id": "rs755214571", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755214571" } ], "glycoeffect": [], "start_pos": 2948, "end_pos": 2948, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052943", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2948", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149492184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149492184" }, { "id": "rs149492184", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149492184" }, { "id": "rs149492184", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149492184" }, { "id": "rs149492184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149492184#frequency_tab" }, { "id": "rs149492184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149492184" }, { "id": "rs149492184", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149492184" } ], "glycoeffect": [], "start_pos": 2949, "end_pos": 2949, "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052940", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2949", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1366517470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366517470" }, { "id": "rs1366517470", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366517470" } ], "glycoeffect": [], "start_pos": 2949, "end_pos": 2949, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052939", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2949", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2949, "end_pos": 2949, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052939", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2949", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs149492184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149492184" }, { "id": "rs149492184", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149492184" }, { "id": "rs149492184", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149492184" }, { "id": "rs149492184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149492184#frequency_tab" }, { "id": "rs149492184", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149492184" }, { "id": "rs149492184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149492184" } ], "glycoeffect": [], "start_pos": 2949, "end_pos": 2949, "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32052940", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "0.00899", "site_lbl": "P2949", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs757817268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757817268" }, { "id": "rs757817268", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757817268" }, { "id": "rs757817268", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757817268#frequency_tab" }, { "id": "rs757817268", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757817268" } ], "glycoeffect": [], "start_pos": 294, "end_pos": 294, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096972", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766465124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766465124" }, { "id": "rs766465124", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766465124" }, { "id": "rs766465124", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766465124#frequency_tab" }, { "id": "rs766465124", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766465124" }, { "id": "rs766465124", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766465124" } ], "glycoeffect": [], "start_pos": 2950, "end_pos": 2950, "sequence_org": "P", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052937", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2950", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs761719524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761719524" }, { "id": "rs761719524", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761719524" }, { "id": "rs761719524", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761719524" } ], "glycoeffect": [], "start_pos": 2950, "end_pos": 2950, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052936", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2950", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs774346039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774346039" }, { "id": "rs774346039", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774346039" }, { "id": "rs774346039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774346039#frequency_tab" }, { "id": "rs774346039", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774346039" } ], "glycoeffect": [], "start_pos": 2951, "end_pos": 2951, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052934", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2951", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483447973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483447973" } ], "glycoeffect": [], "start_pos": 2952, "end_pos": 2952, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052930", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2952", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2952, "end_pos": 2952, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052931", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2952", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs763958858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763958858" }, { "id": "rs763958858", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763958858" }, { "id": "rs763958858", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763958858" }, { "id": "rs763958858", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763958858#frequency_tab" }, { "id": "rs763958858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763958858" }, { "id": "rs763958858", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763958858" } ], "glycoeffect": [], "start_pos": 2953, "end_pos": 2953, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052927", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2953", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs763958858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763958858" } ], "glycoeffect": [], "start_pos": 2953, "end_pos": 2953, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052927", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2953", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs554550665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554550665" }, { "id": "rs554550665", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554550665" }, { "id": "rs554550665", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554550665" }, { "id": "rs554550665", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs554550665#frequency_tab" }, { "id": "rs554550665", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554550665" } ], "glycoeffect": [], "start_pos": 2954, "end_pos": 2954, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052924", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2954", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562797000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562797000" }, { "id": "rs1562797000", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562797000" } ], "glycoeffect": [], "start_pos": 2956, "end_pos": 2956, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052918", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2956", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562797000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562797000" } ], "glycoeffect": [], "start_pos": 2956, "end_pos": 2956, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052918", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2956", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2956, "end_pos": 2956, "subjects_tested": "4177", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052918", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2956", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs937211615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs937211615" }, { "id": "rs937211615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs937211615" }, { "id": "rs937211615", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs937211615" } ], "glycoeffect": [], "start_pos": 295, "end_pos": 295, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096968", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C295", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2960, "end_pos": 2960, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052906", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V2960", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs770471003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770471003" }, { "id": "rs770471003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770471003" }, { "id": "rs770471003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770471003" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2961, "end_pos": 2961, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052903", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2961", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2962, "end_pos": 2962, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052901", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2962", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2962, "end_pos": 2962, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052900", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2962", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs746437915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746437915" }, { "id": "rs746437915", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746437915" }, { "id": "rs746437915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746437915" } ], "glycoeffect": [], "start_pos": 2962, "end_pos": 2962, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052901", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2962", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777379654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777379654" }, { "id": "rs1777379654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777379654" }, { "id": "rs1777379654", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777379654" } ], "glycoeffect": [], "start_pos": 2962, "end_pos": 2962, "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052900", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2962", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1777379245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777379245" }, { "id": "rs1777379245", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777379245#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2963, "end_pos": 2963, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052897", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2963", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777378836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777378836" }, { "id": "rs1777378836", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777378836#frequency_tab" } ], "glycoeffect": [], "start_pos": 2965, "end_pos": 2965, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052891", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2965", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1476243221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476243221" }, { "id": "rs1476243221", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1476243221#frequency_tab" }, { "id": "rs1476243221", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1476243221" } ], "glycoeffect": [], "start_pos": 2966, "end_pos": 2966, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052889", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2966", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1038108696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1038108696" }, { "id": "rs1038108696", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1038108696#frequency_tab" }, { "id": "rs1038108696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1038108696" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2967, "end_pos": 2967, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052885", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2967", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1200278912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200278912" }, { "id": "rs1200278912", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1200278912#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2967, "end_pos": 2967, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052886", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2967", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2967, "end_pos": 2967, "subjects_tested": "719", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052885", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S2967", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs778439510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778439510" }, { "id": "rs778439510", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778439510" }, { "id": "rs778439510", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778439510" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2969, "end_pos": 2969, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052880", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2969", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs942299774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs942299774" }, { "id": "rs942299774", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs942299774" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2969, "end_pos": 2969, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052879", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2969", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777376833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777376833" }, { "id": "rs1777376833", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777376833" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2969, "end_pos": 2969, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052878", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2969", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752073445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752073445" }, { "id": "rs752073445", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752073445" }, { "id": "rs752073445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752073445" } ], "glycoeffect": [], "start_pos": 296, "end_pos": 296, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096967", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V296", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2970, "end_pos": 2970, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052877", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L2970", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2972, "end_pos": 2972, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052870", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W2972", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777376640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777376640" }, { "id": "rs1777376640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777376640" } ], "glycoeffect": [], "start_pos": 2972, "end_pos": 2972, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052871", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W2972", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs535926165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535926165" }, { "id": "rs535926165", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs535926165" }, { "id": "rs535926165", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535926165" }, { "id": "rs535926165", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs535926165#frequency_tab" }, { "id": "rs535926165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs535926165" } ], "glycoeffect": [], "start_pos": 2974, "end_pos": 2974, "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052865", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2974", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748557623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748557623" }, { "id": "rs748557623", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748557623" }, { "id": "rs748557623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748557623" } ], "glycoeffect": [], "start_pos": 2974, "end_pos": 2974, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052864", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2974", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748557623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748557623" } ], "glycoeffect": [], "start_pos": 2974, "end_pos": 2974, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052864", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2974", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs535926165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535926165" }, { "id": "rs535926165", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs535926165" }, { "id": "rs535926165", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535926165" }, { "id": "rs535926165", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs535926165#frequency_tab" }, { "id": "rs535926165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs535926165" } ], "glycoeffect": [], "start_pos": 2974, "end_pos": 2974, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052865", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2974", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779392249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779392249" }, { "id": "rs779392249", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779392249" }, { "id": "rs779392249", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779392249" } ], "glycoeffect": [], "start_pos": 2975, "end_pos": 2975, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052861", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2975", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755304407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755304407" }, { "id": "rs755304407", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755304407" }, { "id": "rs755304407", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755304407#frequency_tab" }, { "id": "rs755304407", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755304407" } ], "glycoeffect": [], "start_pos": 2977, "end_pos": 2977, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052856", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2977", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755304407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755304407" }, { "id": "rs755304407", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755304407" }, { "id": "rs755304407", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755304407#frequency_tab" }, { "id": "rs755304407", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755304407" } ], "glycoeffect": [], "start_pos": 2977, "end_pos": 2977, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052856", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2977", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs766441687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766441687" }, { "id": "rs766441687", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766441687" }, { "id": "rs766441687", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766441687#frequency_tab" }, { "id": "rs766441687", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766441687" } ], "glycoeffect": [], "start_pos": 2978, "end_pos": 2978, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052853", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2978", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs766441687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766441687" }, { "id": "rs766441687", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766441687" }, { "id": "rs766441687", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766441687#frequency_tab" }, { "id": "rs766441687", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766441687" } ], "glycoeffect": [], "start_pos": 2978, "end_pos": 2978, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052853", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2978", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201584548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201584548" }, { "id": "rs201584548", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201584548" }, { "id": "rs201584548", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201584548" }, { "id": "rs201584548", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201584548#frequency_tab" }, { "id": "rs201584548", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201584548" } ], "glycoeffect": [], "start_pos": 2978, "end_pos": 2978, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052852", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2978", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201584548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201584548" }, { "id": "rs201584548", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201584548" }, { "id": "rs201584548", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201584548" }, { "id": "rs201584548", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201584548#frequency_tab" }, { "id": "rs201584548", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201584548" } ], "glycoeffect": [], "start_pos": 2978, "end_pos": 2978, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052852", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2978", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1267968327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267968327" }, { "id": "rs1267968327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1267968327" } ], "glycoeffect": [], "start_pos": 2980, "end_pos": 2980, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052846", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2980", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs750418889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750418889" }, { "id": "rs750418889", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750418889" }, { "id": "rs750418889", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750418889#frequency_tab" }, { "id": "rs750418889", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750418889" }, { "id": "rs750418889", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750418889" } ], "glycoeffect": [], "start_pos": 2980, "end_pos": 2980, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052847", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2980", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1448433741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448433741" }, { "id": "rs1448433741", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448433741" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2981, "end_pos": 2981, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052843", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2981", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196455879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196455879" }, { "id": "rs1196455879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196455879" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2981, "end_pos": 2981, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052844", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2981", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764048649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764048649" }, { "id": "rs764048649", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764048649" }, { "id": "rs764048649", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764048649" } ], "glycoeffect": [], "start_pos": 2982, "end_pos": 2982, "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052841", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2982", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1326482414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326482414" }, { "id": "rs1326482414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1326482414" } ], "glycoeffect": [], "start_pos": 2984, "end_pos": 2984, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052834", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2984", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777373081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777373081" }, { "id": "rs1777373081", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777373081#frequency_tab" } ], "glycoeffect": [], "start_pos": 2985, "end_pos": 2985, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052832", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2985", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs547185346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547185346" }, { "id": "rs547185346", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547185346" }, { "id": "rs547185346", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547185346" } ], "glycoeffect": [], "start_pos": 2985, "end_pos": 2985, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052831", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "Q2985", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs547185346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547185346" }, { "id": "rs547185346", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547185346" }, { "id": "rs547185346", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547185346" } ], "glycoeffect": [], "start_pos": 2985, "end_pos": 2985, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052831", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "Q2985", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1225929508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225929508" }, { "id": "rs1225929508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1225929508#frequency_tab" }, { "id": "rs1225929508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225929508" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2986, "end_pos": 2986, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052829", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777372395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777372395" }, { "id": "rs1777372395", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777372395#frequency_tab" } ], "glycoeffect": [], "start_pos": 2987, "end_pos": 2987, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052826", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2987", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777372199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777372199" }, { "id": "rs1777372199", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777372199" } ], "glycoeffect": [], "start_pos": 2988, "end_pos": 2988, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052821", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2988", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs886790820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886790820" }, { "id": "rs886790820", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs886790820#frequency_tab" } ], "glycoeffect": [], "start_pos": 2989, "end_pos": 2989, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052820", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2989", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775312280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775312280" }, { "id": "rs775312280", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775312280" }, { "id": "rs775312280", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775312280#frequency_tab" }, { "id": "rs775312280", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775312280" }, { "id": "rs775312280", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775312280" } ], "glycoeffect": [], "start_pos": 2989, "end_pos": 2989, "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32052819", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "0.000070", "site_lbl": "R2989", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1283106547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283106547" }, { "id": "rs1283106547", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1283106547#frequency_tab" }, { "id": "rs1283106547", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283106547" } ], "glycoeffect": [], "start_pos": 2989, "end_pos": 2989, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052818", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2989", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370549615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370549615" }, { "id": "rs370549615", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370549615" }, { "id": "rs370549615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370549615" } ], "glycoeffect": [], "start_pos": 298, "end_pos": 298, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096961", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N298", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 298, "end_pos": 298, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096960", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N298", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs759178833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759178833" }, { "id": "rs759178833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759178833" }, { "id": "rs759178833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759178833" } ], "glycoeffect": [], "start_pos": 2990, "end_pos": 2990, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052815", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2990", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs184345253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184345253" }, { "id": "rs184345253", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs184345253" }, { "id": "rs184345253", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs184345253" } ], "glycoeffect": [], "start_pos": 2991, "end_pos": 2991, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052813", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2991", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs371159200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371159200" }, { "id": "rs371159200", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371159200" }, { "id": "rs371159200", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371159200" }, { "id": "rs371159200", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371159200#frequency_tab" }, { "id": "rs371159200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371159200" }, { "id": "rs371159200", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371159200" } ], "glycoeffect": [], "start_pos": 2991, "end_pos": 2991, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052814", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2991", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs772749033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772749033" }, { "id": "rs772749033", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772749033" }, { "id": "rs772749033", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772749033#frequency_tab" }, { "id": "rs772749033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772749033" } ], "glycoeffect": [], "start_pos": 2992, "end_pos": 2992, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052810", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2992", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs772749033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772749033" }, { "id": "rs772749033", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772749033" }, { "id": "rs772749033", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772749033#frequency_tab" }, { "id": "rs772749033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772749033" }, { "id": "rs772749033", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772749033" } ], "glycoeffect": [], "start_pos": 2992, "end_pos": 2992, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052810", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2992", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs760257516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760257516" }, { "id": "rs760257516", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760257516" }, { "id": "rs760257516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760257516#frequency_tab" }, { "id": "rs760257516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760257516" } ], "glycoeffect": [], "start_pos": 2992, "end_pos": 2992, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052811", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2992", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs748647500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748647500" }, { "id": "rs748647500", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748647500" }, { "id": "rs748647500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748647500" }, { "id": "rs748647500", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748647500" } ], "glycoeffect": [], "start_pos": 2993, "end_pos": 2993, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052808", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2993", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2994, "end_pos": 2994, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052805", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q2994", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777368931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777368931" }, { "id": "rs1777368931", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777368931" } ], "glycoeffect": [], "start_pos": 2995, "end_pos": 2995, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052801", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2995", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 2995, "end_pos": 2995, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052801", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2995", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1428504069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1428504069" }, { "id": "rs1428504069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1428504069" } ], "glycoeffect": [], "start_pos": 2995, "end_pos": 2995, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052802", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2995", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483446590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483446590" } ], "glycoeffect": [], "start_pos": 2996, "end_pos": 2996, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052798", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2996", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs779482777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779482777" }, { "id": "rs779482777", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779482777" }, { "id": "rs779482777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779482777#frequency_tab" }, { "id": "rs779482777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779482777" } ], "glycoeffect": [], "start_pos": 2996, "end_pos": 2996, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052799", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2996", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs769065624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769065624" }, { "id": "rs769065624", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769065624" }, { "id": "rs769065624", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769065624#frequency_tab" }, { "id": "rs769065624", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769065624" }, { "id": "rs769065624", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769065624" } ], "glycoeffect": [], "start_pos": 2997, "end_pos": 2997, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052796", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2997", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs769065624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769065624" }, { "id": "rs769065624", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769065624" }, { "id": "rs769065624", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769065624#frequency_tab" }, { "id": "rs769065624", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769065624" } ], "glycoeffect": [], "start_pos": 2997, "end_pos": 2997, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052796", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2997", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs41270454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41270454" }, { "id": "rs41270454", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41270454" }, { "id": "rs41270454", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41270454" }, { "id": "rs41270454", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41270454#frequency_tab" }, { "id": "rs41270454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41270454" }, { "id": "rs41270454", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41270454" } ], "glycoeffect": [], "start_pos": 2997, "end_pos": 2997, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052795", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2997", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs968632420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs968632420" }, { "id": "rs968632420", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs968632420" } ], "glycoeffect": [], "start_pos": 2998, "end_pos": 2998, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052793", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2998", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs968632420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs968632420" }, { "id": "rs968632420", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs968632420" }, { "id": "rs968632420", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs968632420" } ], "glycoeffect": [], "start_pos": 2998, "end_pos": 2998, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052793", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2998", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs756247558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756247558" }, { "id": "rs756247558", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756247558" }, { "id": "rs756247558", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756247558#frequency_tab" }, { "id": "rs756247558", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756247558" } ], "glycoeffect": [], "start_pos": 2999, "end_pos": 2999, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052790", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2999", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs11759232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11759232" }, { "id": "rs11759232", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs11759232" } ], "glycoeffect": [], "start_pos": 2999, "end_pos": 2999, "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052789", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2999", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750030373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750030373" } ], "glycoeffect": [], "start_pos": 2999, "end_pos": 2999, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052790", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2999", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780435287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780435287" }, { "id": "rs1780435287", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780435287#frequency_tab" }, { "id": "rs1780435287", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780435287" } ], "glycoeffect": [], "start_pos": 299, "end_pos": 299, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096958", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs184878358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184878358" }, { "id": "rs184878358", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs184878358" }, { "id": "rs184878358", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184878358" }, { "id": "rs184878358", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs184878358#frequency_tab" }, { "id": "rs184878358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs184878358" } ], "glycoeffect": [], "start_pos": 29, "end_pos": 29, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098113", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00686813", "site_lbl": "R29", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs368512272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368512272" }, { "id": "rs368512272", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368512272" }, { "id": "rs368512272", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368512272#frequency_tab" }, { "id": "rs368512272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368512272" } ], "glycoeffect": [], "start_pos": 29, "end_pos": 29, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098114", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R29", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs770613234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770613234" }, { "id": "rs770613234", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770613234" }, { "id": "rs770613234", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770613234#frequency_tab" }, { "id": "rs770613234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770613234" } ], "glycoeffect": [], "start_pos": 2, "end_pos": 2, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098195", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3000, "end_pos": 3000, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052787", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3000", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs781225563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781225563" }, { "id": "rs781225563", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781225563" }, { "id": "rs781225563", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781225563#frequency_tab" }, { "id": "rs781225563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781225563" } ], "glycoeffect": [], "start_pos": 3001, "end_pos": 3001, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052784", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3001", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758387775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758387775" }, { "id": "rs758387775", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758387775" }, { "id": "rs758387775", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758387775#frequency_tab" }, { "id": "rs758387775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758387775" } ], "glycoeffect": [], "start_pos": 3002, "end_pos": 3002, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052780", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777365553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777365553" }, { "id": "rs1777365553", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777365553" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3003, "end_pos": 3003, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052778", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3003", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777365553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777365553" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3003, "end_pos": 3003, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052778", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3003", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752627211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752627211" }, { "id": "rs752627211", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752627211" }, { "id": "rs752627211", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752627211#frequency_tab" }, { "id": "rs752627211", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752627211" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3003, "end_pos": 3003, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052777", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3003", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs563489538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563489538" }, { "id": "rs563489538", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563489538" }, { "id": "rs563489538", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563489538" }, { "id": "rs563489538", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563489538#frequency_tab" }, { "id": "rs563489538", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563489538" }, { "id": "rs563489538", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563489538" } ], "glycoeffect": [], "start_pos": 3004, "end_pos": 3004, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052775", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3004", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1363262442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363262442" }, { "id": "rs1363262442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363262442" } ], "glycoeffect": [], "start_pos": 3005, "end_pos": 3005, "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052771", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3005", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3006, "end_pos": 3006, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052768", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T3006", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3007, "end_pos": 3007, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052765", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V3007", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1453472861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453472861" }, { "id": "rs1453472861", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1453472861#frequency_tab" }, { "id": "rs1453472861", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453472861" } ], "glycoeffect": [], "start_pos": 3007, "end_pos": 3007, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052766", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3007", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1453472861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453472861" }, { "id": "rs1453472861", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1453472861#frequency_tab" }, { "id": "rs1453472861", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453472861" } ], "glycoeffect": [], "start_pos": 3007, "end_pos": 3007, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052766", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3007", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1332136580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332136580" }, { "id": "rs1332136580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332136580" }, { "id": "rs1332136580", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1332136580" } ], "glycoeffect": [], "start_pos": 3008, "end_pos": 3008, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052763", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3008", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1332136580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332136580" }, { "id": "rs1332136580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332136580" } ], "glycoeffect": [], "start_pos": 3008, "end_pos": 3008, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052763", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3008", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1420007975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420007975" }, { "id": "rs1420007975", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420007975" } ], "glycoeffect": [], "start_pos": 3009, "end_pos": 3009, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052759", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3009", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1420007975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420007975" }, { "id": "rs1420007975", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420007975" } ], "glycoeffect": [], "start_pos": 3009, "end_pos": 3009, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052759", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3009", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1366605473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366605473" }, { "id": "rs1366605473", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1366605473#frequency_tab" }, { "id": "rs1366605473", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366605473" } ], "glycoeffect": [], "start_pos": 300, "end_pos": 300, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096955", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G300", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760215956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760215956" }, { "id": "rs760215956", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760215956" }, { "id": "rs760215956", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760215956#frequency_tab" }, { "id": "rs760215956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760215956" } ], "glycoeffect": [], "start_pos": 3010, "end_pos": 3010, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052756", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3010", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3011, "end_pos": 3011, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052754", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E3011", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1267626244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267626244" }, { "id": "rs1267626244", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1267626244#frequency_tab" }, { "id": "rs1267626244", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1267626244" } ], "glycoeffect": [], "start_pos": 3012, "end_pos": 3012, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052750", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs771698162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771698162" }, { "id": "rs771698162", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771698162" }, { "id": "rs771698162", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771698162#frequency_tab" }, { "id": "rs771698162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771698162" } ], "glycoeffect": [], "start_pos": 3013, "end_pos": 3013, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052748", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3013", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151896298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151896298" }, { "id": "rs2151896298", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151896298" } ], "glycoeffect": [], "start_pos": 3013, "end_pos": 3013, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052747", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3013", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2857007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2857007" }, { "id": "rs2857007", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2857007" }, { "id": "rs2857007", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2857007" }, { "id": "rs2857007", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2857007#frequency_tab" }, { "id": "rs2857007", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2857007" }, { "id": "rs2857007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2857007" } ], "glycoeffect": [], "start_pos": 3014, "end_pos": 3014, "sequence_org": "C", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32052745", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "0.00699", "site_lbl": "C3014", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs775008596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775008596" }, { "id": "rs775008596", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775008596" }, { "id": "rs775008596", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775008596#frequency_tab" }, { "id": "rs775008596", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775008596" } ], "glycoeffect": [], "start_pos": 3015, "end_pos": 3015, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052742", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3015", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777360602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777360602" }, { "id": "rs1777360602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777360602#frequency_tab" } ], "glycoeffect": [], "start_pos": 3015, "end_pos": 3015, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052741", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3015", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs559819849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559819849" }, { "id": "rs559819849", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559819849" }, { "id": "rs559819849", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559819849" }, { "id": "rs559819849", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs559819849#frequency_tab" }, { "id": "rs559819849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs559819849" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3016, "end_pos": 3016, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052737", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "Y3016", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777360195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777360195" }, { "id": "rs1777360195", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777360195#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3016, "end_pos": 3016, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052738", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3016", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs17207895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207895" }, { "id": "rs17207895", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17207895" }, { "id": "rs17207895", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17207895" }, { "id": "rs17207895", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs17207895#frequency_tab" }, { "id": "rs17207895", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17207895" }, { "id": "rs17207895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs17207895" } ], "glycoeffect": [], "start_pos": 3017, "end_pos": 3017, "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32052735", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "0.00659", "site_lbl": "K3017", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs770102906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770102906" }, { "id": "rs770102906", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770102906" }, { "id": "rs770102906", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770102906" } ], "glycoeffect": [], "start_pos": 3018, "end_pos": 3018, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052731", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3018", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780248876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780248876" }, { "id": "rs780248876", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780248876" }, { "id": "rs780248876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780248876" } ], "glycoeffect": [], "start_pos": 3018, "end_pos": 3018, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052732", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3018", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781316288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781316288" }, { "id": "rs781316288", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781316288" }, { "id": "rs781316288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781316288#frequency_tab" }, { "id": "rs781316288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781316288" } ], "glycoeffect": [], "start_pos": 3019, "end_pos": 3019, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052729", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3019", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751582197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751582197" }, { "id": "rs751582197", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751582197" }, { "id": "rs751582197", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751582197#frequency_tab" }, { "id": "rs751582197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751582197" } ], "glycoeffect": [], "start_pos": 3019, "end_pos": 3019, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052728", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3019", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746075115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746075115" }, { "id": "rs746075115", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746075115" }, { "id": "rs746075115", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746075115#frequency_tab" }, { "id": "rs746075115", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746075115" } ], "glycoeffect": [], "start_pos": 3019, "end_pos": 3019, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052730", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3019", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1445072386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445072386" }, { "id": "rs1445072386", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1445072386#frequency_tab" }, { "id": "rs1445072386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445072386" } ], "glycoeffect": [], "start_pos": 3020, "end_pos": 3020, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052727", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778933613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778933613" }, { "id": "rs778933613", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778933613" }, { "id": "rs778933613", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778933613" } ], "glycoeffect": [], "start_pos": 3020, "end_pos": 3020, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052726", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753710096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753710096" }, { "id": "rs753710096", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753710096" }, { "id": "rs753710096", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753710096#frequency_tab" }, { "id": "rs753710096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753710096" } ], "glycoeffect": [], "start_pos": 3022, "end_pos": 3022, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052721", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3022", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766067974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766067974" }, { "id": "rs766067974", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766067974" }, { "id": "rs766067974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766067974" } ], "glycoeffect": [], "start_pos": 3022, "end_pos": 3022, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052720", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3022", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777357157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777357157" }, { "id": "rs1777357157", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777357157#frequency_tab" } ], "glycoeffect": [], "start_pos": 3023, "end_pos": 3023, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052718", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3023", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61729739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61729739" }, { "id": "rs61729739", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61729739" }, { "id": "rs61729739", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61729739" }, { "id": "rs61729739", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61729739#frequency_tab" }, { "id": "rs61729739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61729739" } ], "glycoeffect": [], "start_pos": 3024, "end_pos": 3024, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052713", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.00274725", "site_lbl": "H3024", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2151896212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151896212" }, { "id": "rs2151896212", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151896212" } ], "glycoeffect": [], "start_pos": 3025, "end_pos": 3025, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052710", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3025", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1181707648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181707648" }, { "id": "rs1181707648", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1181707648#frequency_tab" }, { "id": "rs1181707648", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1181707648" } ], "glycoeffect": [], "start_pos": 3025, "end_pos": 3025, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052711", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3025", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1355021413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355021413" }, { "id": "rs1355021413", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355021413#frequency_tab" }, { "id": "rs1355021413", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355021413" }, { "id": "rs1355021413", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1355021413" } ], "glycoeffect": [], "start_pos": 3025, "end_pos": 3025, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052712", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3025", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1400957210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400957210" }, { "id": "rs1400957210", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1400957210#frequency_tab" } ], "glycoeffect": [], "start_pos": 3026, "end_pos": 3026, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052708", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3026", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3026, "end_pos": 3026, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052708", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3026", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1427583016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427583016" }, { "id": "rs1427583016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427583016" } ], "glycoeffect": [], "start_pos": 3027, "end_pos": 3027, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052704", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3027", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs767216957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767216957" }, { "id": "rs767216957", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767216957" }, { "id": "rs767216957", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767216957#frequency_tab" }, { "id": "rs767216957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767216957" }, { "id": "rs767216957", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767216957" } ], "glycoeffect": [], "start_pos": 3027, "end_pos": 3027, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052705", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q3027", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3028, "end_pos": 3028, "subjects_tested": "9251", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052703", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3028", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs189416175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189416175" }, { "id": "rs189416175", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189416175" }, { "id": "rs189416175", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189416175" }, { "id": "rs189416175", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs189416175#frequency_tab" }, { "id": "rs189416175", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs189416175" }, { "id": "rs189416175", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189416175" } ], "glycoeffect": [], "start_pos": 3028, "end_pos": 3028, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052702", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3028", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs543265032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543265032" }, { "id": "rs543265032", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543265032" }, { "id": "rs543265032", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543265032" }, { "id": "rs543265032", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs543265032#frequency_tab" }, { "id": "rs543265032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs543265032" }, { "id": "rs543265032", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543265032" } ], "glycoeffect": [], "start_pos": 3029, "end_pos": 3029, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052700", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3029", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1150752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1150752" }, { "id": "rs1150752", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1150752" }, { "id": "rs1150752", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1150752" }, { "id": "rs1150752", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1150752#frequency_tab" }, { "id": "rs1150752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1150752" }, { "id": "rs1150752", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1150752" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 302, "end_pos": 302, "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096949", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T302", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1150752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1150752" }, { "id": "rs1150752", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1150752" }, { "id": "rs1150752", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1150752" }, { "id": "rs1150752", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1150752#frequency_tab" }, { "id": "rs1150752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1150752" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 302, "end_pos": 302, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096949", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T302", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780434046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780434046" }, { "id": "rs1780434046", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780434046" }, { "id": "rs1780434046", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780434046" } ], "glycoeffect": [], "start_pos": 302, "end_pos": 302, "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096948", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T302", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3030, "end_pos": 3030, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052696", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G3030", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs1443590183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443590183" }, { "id": "rs1443590183", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443590183" } ], "glycoeffect": [], "start_pos": 3030, "end_pos": 3030, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052696", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777354692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777354692" }, { "id": "rs1777354692", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777354692#frequency_tab" } ], "glycoeffect": [], "start_pos": 3030, "end_pos": 3030, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052697", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3031, "end_pos": 3031, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052693", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3031", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1035272644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1035272644" }, { "id": "rs1035272644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1035272644#frequency_tab" }, { "id": "rs1035272644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1035272644" } ], "glycoeffect": [], "start_pos": 3032, "end_pos": 3032, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052690", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3032", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1178410314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178410314" }, { "id": "rs1178410314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178410314" } ], "glycoeffect": [], "start_pos": 3032, "end_pos": 3032, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052691", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3032", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1050835934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1050835934" }, { "id": "rs1050835934", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1050835934" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3033, "end_pos": 3033, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052687", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3033", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3033, "end_pos": 3033, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052688", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S3033", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs770049252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770049252" }, { "id": "rs770049252", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770049252" }, { "id": "rs770049252", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770049252" } ], "glycoeffect": [], "start_pos": 3034, "end_pos": 3034, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052685", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3034", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770049252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770049252" }, { "id": "rs770049252", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770049252" }, { "id": "rs770049252", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770049252" } ], "glycoeffect": [], "start_pos": 3034, "end_pos": 3034, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052685", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3034", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746165080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746165080" }, { "id": "rs746165080", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746165080" }, { "id": "rs746165080", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746165080#frequency_tab" }, { "id": "rs746165080", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746165080" }, { "id": "rs746165080", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746165080" } ], "glycoeffect": [], "start_pos": 3034, "end_pos": 3034, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052684", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3034", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1582359321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582359321" }, { "id": "rs1582359321", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582359321" } ], "glycoeffect": [], "start_pos": 3036, "end_pos": 3036, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052678", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3036", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3036, "end_pos": 3036, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052679", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3036", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777352109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777352109" }, { "id": "rs1777352109", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777352109#frequency_tab" } ], "glycoeffect": [], "start_pos": 3037, "end_pos": 3037, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32052676", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3037", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3038, "end_pos": 3038, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32052673", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T3038", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1317923016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317923016" }, { "id": "rs1317923016", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1317923016#frequency_tab" }, { "id": "rs1317923016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317923016" } ], "glycoeffect": [], "start_pos": 303, "end_pos": 303, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096945", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G303", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483433395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483433395" } ], "glycoeffect": [], "start_pos": 3040, "end_pos": 3040, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050319", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3040", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376639281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376639281" }, { "id": "rs376639281", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376639281" }, { "id": "rs376639281", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376639281" }, { "id": "rs376639281", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376639281#frequency_tab" }, { "id": "rs376639281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376639281" } ], "glycoeffect": [], "start_pos": 3041, "end_pos": 3041, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050316", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "K3041", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1185969491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185969491" } ], "glycoeffect": [], "start_pos": 3041, "end_pos": 3041, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050314", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3041", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376639281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376639281" }, { "id": "rs376639281", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376639281" }, { "id": "rs376639281", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376639281" }, { "id": "rs376639281", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376639281#frequency_tab" }, { "id": "rs376639281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376639281" } ], "glycoeffect": [], "start_pos": 3041, "end_pos": 3041, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050316", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "K3041", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779979414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779979414" }, { "id": "rs779979414", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779979414" }, { "id": "rs779979414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779979414" } ], "glycoeffect": [], "start_pos": 3042, "end_pos": 3042, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050312", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3042", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1177694816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177694816" }, { "id": "rs1177694816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177694816" }, { "id": "rs1177694816", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1177694816" } ], "glycoeffect": [], "start_pos": 3043, "end_pos": 3043, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050310", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3043", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1777202556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777202556" }, { "id": "rs1777202556", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777202556#frequency_tab" } ], "glycoeffect": [], "start_pos": 3044, "end_pos": 3044, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050306", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3044", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746050859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746050859" }, { "id": "rs746050859", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746050859" }, { "id": "rs746050859", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746050859" }, { "id": "rs746050859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746050859#frequency_tab" }, { "id": "rs746050859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746050859" } ], "glycoeffect": [], "start_pos": 3045, "end_pos": 3045, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050304", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3045", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs746050859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746050859" }, { "id": "rs746050859", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746050859" }, { "id": "rs746050859", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746050859" }, { "id": "rs746050859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746050859#frequency_tab" }, { "id": "rs746050859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746050859" } ], "glycoeffect": [], "start_pos": 3045, "end_pos": 3045, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050304", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3045", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483433201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483433201" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3047, "end_pos": 3047, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050297", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3047", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781589497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781589497" }, { "id": "rs781589497", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781589497" }, { "id": "rs781589497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781589497" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3047, "end_pos": 3047, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050298", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3047", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1394706327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394706327" }, { "id": "rs1394706327", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1394706327#frequency_tab" } ], "glycoeffect": [], "start_pos": 3049, "end_pos": 3049, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050292", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3049", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs907925140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs907925140" }, { "id": "rs907925140", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs907925140#frequency_tab" } ], "glycoeffect": [], "start_pos": 304, "end_pos": 304, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096943", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E304", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780432829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780432829" }, { "id": "rs1780432829", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780432829" } ], "glycoeffect": [], "start_pos": 304, "end_pos": 304, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096941", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E304", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs907925140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs907925140" }, { "id": "rs907925140", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs907925140#frequency_tab" }, { "id": "rs907925140", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs907925140" } ], "glycoeffect": [], "start_pos": 304, "end_pos": 304, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096943", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E304", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs907925140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs907925140" }, { "id": "rs907925140", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs907925140#frequency_tab" } ], "glycoeffect": [], "start_pos": 304, "end_pos": 304, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096943", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E304", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3051, "end_pos": 3051, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050285", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P3051", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777200692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777200692" }, { "id": "rs1777200692", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777200692#frequency_tab" } ], "glycoeffect": [], "start_pos": 3051, "end_pos": 3051, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050285", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3051", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1026537163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1026537163" }, { "id": "rs1026537163", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1026537163#frequency_tab" }, { "id": "rs1026537163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1026537163" } ], "glycoeffect": [], "start_pos": 3053, "end_pos": 3053, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050278", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3053", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1461771502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461771502" }, { "id": "rs1461771502", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1461771502#frequency_tab" }, { "id": "rs1461771502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1461771502" } ], "glycoeffect": [], "start_pos": 3053, "end_pos": 3053, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050279", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3053", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368614627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368614627" }, { "id": "rs368614627", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368614627" }, { "id": "rs368614627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368614627#frequency_tab" }, { "id": "rs368614627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368614627" } ], "glycoeffect": [], "start_pos": 3054, "end_pos": 3054, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050276", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs573662713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573662713" }, { "id": "rs573662713", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs573662713" }, { "id": "rs573662713", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573662713" }, { "id": "rs573662713", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs573662713#frequency_tab" }, { "id": "rs573662713", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs573662713" } ], "glycoeffect": [], "start_pos": 3055, "end_pos": 3055, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050274", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3055", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201103486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201103486" }, { "id": "rs201103486", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201103486" }, { "id": "rs201103486", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201103486" }, { "id": "rs201103486", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201103486#frequency_tab" }, { "id": "rs201103486", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201103486" } ], "glycoeffect": [], "start_pos": 3055, "end_pos": 3055, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050273", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3055", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542833871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542833871" }, { "id": "rs542833871", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542833871" }, { "id": "rs542833871", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542833871" }, { "id": "rs542833871", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542833871#frequency_tab" }, { "id": "rs542833871", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542833871" } ], "glycoeffect": [], "start_pos": 3057, "end_pos": 3057, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050268", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P3057", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760392247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760392247" }, { "id": "rs760392247", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760392247" }, { "id": "rs760392247", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760392247" } ], "glycoeffect": [], "start_pos": 3057, "end_pos": 3057, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050267", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3057", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542833871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542833871" }, { "id": "rs542833871", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542833871" }, { "id": "rs542833871", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542833871" }, { "id": "rs542833871", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542833871#frequency_tab" }, { "id": "rs542833871", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542833871" } ], "glycoeffect": [], "start_pos": 3057, "end_pos": 3057, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050268", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P3057", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374699358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374699358" }, { "id": "rs374699358", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374699358" }, { "id": "rs374699358", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374699358#frequency_tab" }, { "id": "rs374699358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374699358" } ], "glycoeffect": [], "start_pos": 3058, "end_pos": 3058, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050264", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374699358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374699358" }, { "id": "rs374699358", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374699358" }, { "id": "rs374699358", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374699358#frequency_tab" }, { "id": "rs374699358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374699358" } ], "glycoeffect": [], "start_pos": 3058, "end_pos": 3058, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050264", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs572382833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572382833" }, { "id": "rs572382833", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572382833" }, { "id": "rs572382833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572382833" }, { "id": "rs572382833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572382833#frequency_tab" }, { "id": "rs572382833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572382833" } ], "glycoeffect": [], "start_pos": 3058, "end_pos": 3058, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050265", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P3058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs572382833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572382833" }, { "id": "rs572382833", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572382833" }, { "id": "rs572382833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572382833" }, { "id": "rs572382833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572382833#frequency_tab" }, { "id": "rs572382833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572382833" } ], "glycoeffect": [], "start_pos": 3058, "end_pos": 3058, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050265", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P3058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1376678138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376678138" }, { "id": "rs1376678138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1376678138" } ], "glycoeffect": [], "start_pos": 3059, "end_pos": 3059, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050261", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3059", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs34629684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34629684" } ], "glycoeffect": [], "start_pos": 3059, "end_pos": 3059, "sequence_org": "I", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050268", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3059", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1290233876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1290233876" }, { "id": "rs1290233876", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1290233876#frequency_tab" } ], "glycoeffect": [], "start_pos": 305, "end_pos": 305, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096940", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1297048143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297048143" }, { "id": "rs1297048143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297048143" } ], "glycoeffect": [], "start_pos": 305, "end_pos": 305, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096939", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 305, "end_pos": 305, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096940", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D305", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs774380743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774380743" }, { "id": "rs774380743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774380743" }, { "id": "rs774380743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774380743#frequency_tab" }, { "id": "rs774380743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774380743" }, { "id": "rs774380743", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774380743" } ], "glycoeffect": [], "start_pos": 3062, "end_pos": 3062, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050253", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3062", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs769949134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769949134" }, { "id": "rs769949134", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769949134" }, { "id": "rs769949134", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769949134#frequency_tab" }, { "id": "rs769949134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769949134" }, { "id": "rs769949134", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769949134" } ], "glycoeffect": [], "start_pos": 3062, "end_pos": 3062, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050252", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3062", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs769949134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769949134" }, { "id": "rs769949134", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769949134" }, { "id": "rs769949134", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769949134#frequency_tab" }, { "id": "rs769949134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769949134" } ], "glycoeffect": [], "start_pos": 3062, "end_pos": 3062, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050252", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3062", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774380743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774380743" }, { "id": "rs774380743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774380743" }, { "id": "rs774380743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774380743#frequency_tab" }, { "id": "rs774380743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774380743" } ], "glycoeffect": [], "start_pos": 3062, "end_pos": 3062, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050253", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3062", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777194931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777194931" }, { "id": "rs1777194931", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777194931#frequency_tab" } ], "glycoeffect": [], "start_pos": 3063, "end_pos": 3063, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050250", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs554075676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554075676" }, { "id": "rs554075676", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554075676" }, { "id": "rs554075676", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554075676" }, { "id": "rs554075676", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs554075676#frequency_tab" }, { "id": "rs554075676", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554075676" } ], "glycoeffect": [], "start_pos": 3063, "end_pos": 3063, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050249", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244943633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244943633" }, { "id": "rs1244943633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244943633" } ], "glycoeffect": [], "start_pos": 3064, "end_pos": 3064, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050247", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3064", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1198769077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198769077" }, { "id": "rs1198769077", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1198769077#frequency_tab" }, { "id": "rs1198769077", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1198769077" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3067, "end_pos": 3067, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050238", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3067", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3067, "end_pos": 3067, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050238", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T3067", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3068, "end_pos": 3068, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050235", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V3068", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs777978006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777978006" }, { "id": "rs777978006", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777978006" }, { "id": "rs777978006", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777978006#frequency_tab" }, { "id": "rs777978006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777978006" } ], "glycoeffect": [], "start_pos": 3068, "end_pos": 3068, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050235", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3068", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1340388382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1340388382" }, { "id": "rs1340388382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1340388382#frequency_tab" }, { "id": "rs1340388382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1340388382" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3069, "end_pos": 3069, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050231", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3069", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1340388382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1340388382" }, { "id": "rs1340388382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1340388382#frequency_tab" }, { "id": "rs1340388382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1340388382" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3069, "end_pos": 3069, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050231", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3069", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1175513507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175513507" }, { "id": "rs1175513507", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175513507" } ], "glycoeffect": [], "start_pos": 306, "end_pos": 306, "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096937", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C306", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1297307320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297307320" }, { "id": "rs1297307320", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297307320" } ], "glycoeffect": [], "start_pos": 3070, "end_pos": 3070, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050228", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3070", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753102887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753102887" }, { "id": "rs753102887", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753102887" }, { "id": "rs753102887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753102887#frequency_tab" }, { "id": "rs753102887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753102887" } ], "glycoeffect": [], "start_pos": 3071, "end_pos": 3071, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050225", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3071", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs538635877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538635877" }, { "id": "rs538635877", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs538635877" }, { "id": "rs538635877", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538635877" }, { "id": "rs538635877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs538635877" } ], "glycoeffect": [], "start_pos": 3071, "end_pos": 3071, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050226", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A3071", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753102887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753102887" }, { "id": "rs753102887", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753102887" }, { "id": "rs753102887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753102887#frequency_tab" }, { "id": "rs753102887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753102887" }, { "id": "rs753102887", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753102887" } ], "glycoeffect": [], "start_pos": 3071, "end_pos": 3071, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050224-32050225GG", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3071", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs779417033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779417033" }, { "id": "rs779417033", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779417033" }, { "id": "rs779417033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779417033" } ], "glycoeffect": [], "start_pos": 3072, "end_pos": 3072, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050222", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3072", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777190734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777190734" }, { "id": "rs1777190734", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777190734" } ], "glycoeffect": [], "start_pos": 3074, "end_pos": 3074, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050216", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3074", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483432318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483432318" } ], "glycoeffect": [], "start_pos": 3074, "end_pos": 3074, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050217", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3074", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs375552647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375552647" }, { "id": "rs375552647", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375552647" }, { "id": "rs375552647", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375552647#frequency_tab" }, { "id": "rs375552647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375552647" }, { "id": "rs375552647", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375552647" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3075, "end_pos": 3075, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050213", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3075", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs760227792", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760227792" }, { "id": "rs760227792", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760227792" }, { "id": "rs760227792", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760227792" } ], "glycoeffect": [], "start_pos": 3075, "end_pos": 3075, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050214", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3075", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483432198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483432198" } ], "glycoeffect": [], "start_pos": 3076, "end_pos": 3076, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050211", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3076", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs767180972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767180972" }, { "id": "rs767180972", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767180972" }, { "id": "rs767180972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767180972" }, { "id": "rs1224939483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224939483" }, { "id": "rs1224939483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224939483" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3077, "end_pos": 3077, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050208", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3077", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1370576083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370576083" }, { "id": "rs1370576083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370576083" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3079, "end_pos": 3079, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050202", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3079", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761694349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761694349" }, { "id": "rs761694349", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761694349" }, { "id": "rs761694349", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761694349" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3079, "end_pos": 3079, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050201", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3079", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776922010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776922010" }, { "id": "rs776922010", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776922010" }, { "id": "rs776922010", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776922010" } ], "glycoeffect": [], "start_pos": 307, "end_pos": 307, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096933", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs984762939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs984762939" }, { "id": "rs984762939", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs984762939" } ], "glycoeffect": [], "start_pos": 307, "end_pos": 307, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096934", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 307, "end_pos": 307, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096933", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G307", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3080, "end_pos": 3080, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "W", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050198", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W3080", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs774375168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774375168" }, { "id": "rs774375168", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774375168" }, { "id": "rs774375168", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774375168#frequency_tab" }, { "id": "rs774375168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774375168" } ], "glycoeffect": [], "start_pos": 3081, "end_pos": 3081, "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050195", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3081", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774375168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774375168" }, { "id": "rs774375168", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774375168" }, { "id": "rs774375168", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774375168#frequency_tab" }, { "id": "rs774375168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774375168" } ], "glycoeffect": [], "start_pos": 3081, "end_pos": 3081, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050195", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3081", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3082, "end_pos": 3082, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050193", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3082", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3084, "end_pos": 3084, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050186", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E3084", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs372305149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372305149" }, { "id": "rs372305149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372305149" }, { "id": "rs372305149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372305149#frequency_tab" }, { "id": "rs372305149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372305149" }, { "id": "rs372305149", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372305149" } ], "glycoeffect": [], "start_pos": 3084, "end_pos": 3084, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050187", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3084", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1045456660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045456660" }, { "id": "rs1045456660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1045456660#frequency_tab" }, { "id": "rs1045456660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1045456660" } ], "glycoeffect": [], "start_pos": 3087, "end_pos": 3087, "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050177", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3087", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778087396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778087396" }, { "id": "rs778087396", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778087396" }, { "id": "rs778087396", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778087396#frequency_tab" }, { "id": "rs778087396", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778087396" } ], "glycoeffect": [], "start_pos": 3087, "end_pos": 3087, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050178", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3087", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1045456660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045456660" }, { "id": "rs1045456660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1045456660#frequency_tab" }, { "id": "rs1045456660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1045456660" } ], "glycoeffect": [], "start_pos": 3087, "end_pos": 3087, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050177", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3087", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3088, "end_pos": 3088, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050174", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D3088", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1777186938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777186938" }, { "id": "rs1777186938", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777186938" } ], "glycoeffect": [], "start_pos": 3088, "end_pos": 3088, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050175", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3088", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772275214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772275214" }, { "id": "rs772275214", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772275214" }, { "id": "rs772275214", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772275214#frequency_tab" }, { "id": "rs772275214", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772275214" } ], "glycoeffect": [], "start_pos": 3088, "end_pos": 3088, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050174", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3088", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777186493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777186493" }, { "id": "rs1777186493", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777186493" } ], "glycoeffect": [], "start_pos": 3089, "end_pos": 3089, "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050171", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3089", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483431807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483431807" } ], "glycoeffect": [], "start_pos": 3089, "end_pos": 3089, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050170", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3089", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766555918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766555918" }, { "id": "rs766555918", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766555918" }, { "id": "rs766555918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766555918" } ], "glycoeffect": [], "start_pos": 308, "end_pos": 308, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096930", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V308", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866956486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866956486" }, { "id": "rs866956486", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866956486" } ], "glycoeffect": [], "start_pos": 308, "end_pos": 308, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096931", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V308", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3090, "end_pos": 3090, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050167", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F3090", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3090, "end_pos": 3090, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050169", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F3090", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748558173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748558173" }, { "id": "rs748558173", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748558173" }, { "id": "rs748558173", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748558173#frequency_tab" }, { "id": "rs748558173", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748558173" } ], "glycoeffect": [], "start_pos": 3091, "end_pos": 3091, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050166", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3091", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1264143792", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264143792" }, { "id": "rs1264143792", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264143792" }, { "id": "rs1264143792", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1264143792" } ], "glycoeffect": [], "start_pos": 3093, "end_pos": 3093, "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050160", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3093", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs755470483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755470483" }, { "id": "rs755470483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755470483" }, { "id": "rs755470483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755470483#frequency_tab" }, { "id": "rs755470483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755470483" } ], "glycoeffect": [], "start_pos": 3093, "end_pos": 3093, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050158", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3093", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483431692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483431692" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3094, "end_pos": 3094, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050157", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3094", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779513176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779513176" }, { "id": "rs779513176", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779513176" }, { "id": "rs779513176", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779513176#frequency_tab" }, { "id": "rs779513176", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779513176" } ], "glycoeffect": [], "start_pos": 3097, "end_pos": 3097, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050147", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3097", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779513176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779513176" }, { "id": "rs779513176", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779513176" }, { "id": "rs779513176", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779513176#frequency_tab" }, { "id": "rs779513176", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779513176" } ], "glycoeffect": [], "start_pos": 3097, "end_pos": 3097, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050147", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3097", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1307068940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307068940" }, { "id": "rs1307068940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307068940" } ], "glycoeffect": [], "start_pos": 3097, "end_pos": 3097, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050148", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3097", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755685687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755685687" }, { "id": "rs755685687", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755685687" }, { "id": "rs755685687", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755685687" } ], "glycoeffect": [], "start_pos": 3098, "end_pos": 3098, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050144", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3098", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749998371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749998371" }, { "id": "rs749998371", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749998371" }, { "id": "rs749998371", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749998371" } ], "glycoeffect": [], "start_pos": 3099, "end_pos": 3099, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050141", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3099", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196850911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196850911" }, { "id": "rs1196850911", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196850911" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098111", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs538299027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538299027" }, { "id": "rs538299027", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs538299027" }, { "id": "rs538299027", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538299027" }, { "id": "rs538299027", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs538299027#frequency_tab" }, { "id": "rs538299027", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs538299027" } ], "glycoeffect": [], "start_pos": 3100, "end_pos": 3100, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050138", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1457335267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457335267" }, { "id": "rs1457335267", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457335267#frequency_tab" }, { "id": "rs1457335267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457335267" }, { "id": "rs1457335267", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1457335267" } ], "glycoeffect": [], "start_pos": 3101, "end_pos": 3101, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050135", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3101", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3101, "end_pos": 3101, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050136", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3101", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751397290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751397290" }, { "id": "rs751397290", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751397290" }, { "id": "rs751397290", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751397290" } ], "glycoeffect": [], "start_pos": 3102, "end_pos": 3102, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050133", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs200191925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200191925" }, { "id": "rs200191925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200191925" }, { "id": "rs200191925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200191925#frequency_tab" }, { "id": "rs200191925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200191925" }, { "id": "rs200191925", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200191925" } ], "glycoeffect": [], "start_pos": 3103, "end_pos": 3103, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050129", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A3103", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1200433708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200433708" }, { "id": "rs1200433708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1200433708" } ], "glycoeffect": [], "start_pos": 3104, "end_pos": 3104, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050127", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1200433708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200433708" }, { "id": "rs1200433708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1200433708" }, { "id": "rs1200433708", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1200433708" } ], "glycoeffect": [], "start_pos": 3104, "end_pos": 3104, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050127", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3104", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1562791705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562791705" }, { "id": "rs1562791705", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562791705" } ], "glycoeffect": [], "start_pos": 3105, "end_pos": 3105, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050124", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202113575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202113575" }, { "id": "rs202113575", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202113575" }, { "id": "rs202113575", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202113575" }, { "id": "rs202113575", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202113575#frequency_tab" }, { "id": "rs202113575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202113575" } ], "glycoeffect": [], "start_pos": 3105, "end_pos": 3105, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050123", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562791705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562791705" }, { "id": "rs1562791705", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562791705" }, { "id": "rs1562791705", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1562791705" } ], "glycoeffect": [], "start_pos": 3105, "end_pos": 3105, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050124", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3105", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs773247029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773247029" }, { "id": "rs773247029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773247029" }, { "id": "rs773247029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773247029#frequency_tab" }, { "id": "rs773247029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773247029" } ], "glycoeffect": [], "start_pos": 3107, "end_pos": 3107, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050117", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773247029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773247029" }, { "id": "rs773247029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773247029" }, { "id": "rs773247029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773247029#frequency_tab" }, { "id": "rs773247029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773247029" } ], "glycoeffect": [], "start_pos": 3107, "end_pos": 3107, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050117", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766329184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766329184" }, { "id": "rs766329184", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766329184" }, { "id": "rs766329184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766329184" } ], "glycoeffect": [], "start_pos": 3107, "end_pos": 3107, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050118", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1270615839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270615839" }, { "id": "rs1270615839", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1270615839#frequency_tab" }, { "id": "rs1270615839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270615839" } ], "glycoeffect": [], "start_pos": 3108, "end_pos": 3108, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050114", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1292737814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292737814" }, { "id": "rs1292737814", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1292737814#frequency_tab" }, { "id": "rs1292737814", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292737814" } ], "glycoeffect": [], "start_pos": 3108, "end_pos": 3108, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050115", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769053134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769053134" }, { "id": "rs769053134", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769053134" }, { "id": "rs769053134", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769053134#frequency_tab" }, { "id": "rs769053134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769053134" } ], "glycoeffect": [], "start_pos": 3109, "end_pos": 3109, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050110", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777179899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777179899" }, { "id": "rs1777179899", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777179899#frequency_tab" } ], "glycoeffect": [], "start_pos": 3109, "end_pos": 3109, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050111", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367800507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367800507" }, { "id": "rs367800507", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367800507" }, { "id": "rs367800507", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367800507#frequency_tab" }, { "id": "rs367800507", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367800507" } ], "glycoeffect": [], "start_pos": 3110, "end_pos": 3110, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050109", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367800507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367800507" }, { "id": "rs367800507", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367800507" }, { "id": "rs367800507", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367800507#frequency_tab" }, { "id": "rs367800507", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367800507" } ], "glycoeffect": [], "start_pos": 3110, "end_pos": 3110, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050109", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780564843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780564843" }, { "id": "rs780564843", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780564843" }, { "id": "rs780564843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780564843" } ], "glycoeffect": [], "start_pos": 3111, "end_pos": 3111, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050106", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3111", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777178431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777178431" }, { "id": "rs1777178431", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777178431" }, { "id": "rs1777178431", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777178431" } ], "glycoeffect": [], "start_pos": 3112, "end_pos": 3112, "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050102", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3112", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs760099672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760099672" }, { "id": "rs760099672", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760099672" }, { "id": "rs760099672", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760099672#frequency_tab" }, { "id": "rs760099672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760099672" } ], "glycoeffect": [], "start_pos": 3112, "end_pos": 3112, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050103", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780635452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780635452" }, { "id": "rs780635452", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780635452" }, { "id": "rs780635452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780635452" } ], "glycoeffect": [], "start_pos": 3113, "end_pos": 3113, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050099", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777178059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777178059" }, { "id": "rs1777178059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777178059" } ], "glycoeffect": [], "start_pos": 3113, "end_pos": 3113, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050100", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777177730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777177730" }, { "id": "rs1777177730", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777177730#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3114, "end_pos": 3114, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050096", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1385532203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385532203" }, { "id": "rs1385532203", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1385532203#frequency_tab" }, { "id": "rs1385532203", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1385532203" } ], "glycoeffect": [], "start_pos": 3115, "end_pos": 3115, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050094", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756922390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756922390" }, { "id": "rs756922390", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756922390" }, { "id": "rs756922390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756922390" } ], "glycoeffect": [], "start_pos": 3117, "end_pos": 3117, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050087", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777176255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777176255" }, { "id": "rs1777176255", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777176255#frequency_tab" }, { "id": "rs1777176255", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777176255" } ], "glycoeffect": [], "start_pos": 3119, "end_pos": 3119, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050081", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1432786308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1432786308" }, { "id": "rs1432786308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1432786308" } ], "glycoeffect": [], "start_pos": 311, "end_pos": 311, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096921", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C311", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs566357832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566357832" }, { "id": "rs566357832", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs566357832" } ], "glycoeffect": [], "start_pos": 3120, "end_pos": 3120, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050079", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2080776872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2080776872" }, { "id": "rs2080776872", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2080776872#frequency_tab" } ], "glycoeffect": [], "start_pos": 3121, "end_pos": 3121, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050074", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1187784908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187784908" }, { "id": "rs1187784908", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1187784908#frequency_tab" } ], "glycoeffect": [], "start_pos": 3122, "end_pos": 3122, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050073", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs916138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs916138" } ], "glycoeffect": [], "start_pos": 3122, "end_pos": 3122, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050071", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3125, "end_pos": 3125, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050062", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K3125", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1479121315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479121315" }, { "id": "rs1479121315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479121315" } ], "glycoeffect": [], "start_pos": 3125, "end_pos": 3125, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050064", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3125", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751307329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751307329" }, { "id": "rs751307329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751307329" }, { "id": "rs751307329", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751307329#frequency_tab" }, { "id": "rs751307329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751307329" } ], "glycoeffect": [], "start_pos": 3125, "end_pos": 3125, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050063", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3125", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763951482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763951482" }, { "id": "rs763951482", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763951482" }, { "id": "rs763951482", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763951482#frequency_tab" }, { "id": "rs763951482", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763951482" } ], "glycoeffect": [], "start_pos": 3127, "end_pos": 3127, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050058", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3128, "end_pos": 3128, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050054", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L3128", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768599858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768599858" }, { "id": "rs768599858", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768599858" }, { "id": "rs768599858", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768599858#frequency_tab" }, { "id": "rs768599858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768599858" } ], "glycoeffect": [], "start_pos": 312, "end_pos": 312, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096918", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P312", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768599858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768599858" }, { "id": "rs768599858", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768599858" }, { "id": "rs768599858", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768599858#frequency_tab" }, { "id": "rs768599858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768599858" } ], "glycoeffect": [], "start_pos": 312, "end_pos": 312, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096918", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P312", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760781625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760781625" }, { "id": "rs760781625", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760781625" }, { "id": "rs760781625", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760781625#frequency_tab" }, { "id": "rs760781625", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760781625" } ], "glycoeffect": [], "start_pos": 312, "end_pos": 312, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096919", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P312", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1207399055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1207399055" }, { "id": "rs1207399055", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1207399055#frequency_tab" }, { "id": "rs1207399055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1207399055" } ], "glycoeffect": [], "start_pos": 3130, "end_pos": 3130, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050049", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752632085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752632085" }, { "id": "rs752632085", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752632085" }, { "id": "rs752632085", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752632085" } ], "glycoeffect": [], "start_pos": 3130, "end_pos": 3130, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050048", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765232560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765232560" }, { "id": "rs765232560", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765232560" }, { "id": "rs765232560", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765232560#frequency_tab" }, { "id": "rs765232560", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765232560" } ], "glycoeffect": [], "start_pos": 3132, "end_pos": 3132, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050041", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562791408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562791408" }, { "id": "rs1562791408", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562791408" } ], "glycoeffect": [], "start_pos": 3132, "end_pos": 3132, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050043", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1346650075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346650075" }, { "id": "rs1346650075", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346650075" } ], "glycoeffect": [], "start_pos": 3133, "end_pos": 3133, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050039", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760604031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604031" }, { "id": "rs760604031", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604031" }, { "id": "rs760604031", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760604031#frequency_tab" }, { "id": "rs760604031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760604031" } ], "glycoeffect": [], "start_pos": 3133, "end_pos": 3133, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050040", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760604031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604031" }, { "id": "rs760604031", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604031" }, { "id": "rs760604031", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760604031#frequency_tab" }, { "id": "rs760604031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760604031" } ], "glycoeffect": [], "start_pos": 3133, "end_pos": 3133, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050040", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760604031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604031" }, { "id": "rs760604031", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760604031" }, { "id": "rs760604031", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760604031#frequency_tab" }, { "id": "rs760604031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760604031" }, { "id": "rs760604031", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760604031" } ], "glycoeffect": [], "start_pos": 3133, "end_pos": 3133, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050040", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3133", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1312132943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312132943" }, { "id": "rs1312132943", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312132943#frequency_tab" } ], "glycoeffect": [], "start_pos": 3134, "end_pos": 3134, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050037", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1272752898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272752898" }, { "id": "rs1272752898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1272752898" }, { "id": "rs1272752898", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1272752898" } ], "glycoeffect": [], "start_pos": 3136, "end_pos": 3136, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050031", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3136", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs773333813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773333813" }, { "id": "rs773333813", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773333813" }, { "id": "rs773333813", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773333813#frequency_tab" }, { "id": "rs773333813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773333813" } ], "glycoeffect": [], "start_pos": 3136, "end_pos": 3136, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050030", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs761996564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761996564" }, { "id": "rs761996564", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761996564" }, { "id": "rs761996564", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761996564#frequency_tab" }, { "id": "rs761996564", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761996564" }, { "id": "rs761996564", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs761996564" } ], "glycoeffect": [], "start_pos": 3137, "end_pos": 3137, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050028", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3137", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3138, "end_pos": 3138, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050025", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G3138", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777170890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777170890" }, { "id": "rs1777170890", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777170890#frequency_tab" }, { "id": "rs1777170890", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777170890" } ], "glycoeffect": [], "start_pos": 3138, "end_pos": 3138, "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32050024", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G3138", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs1387890420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387890420" }, { "id": "rs1387890420", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1387890420" } ], "glycoeffect": [], "start_pos": 3139, "end_pos": 3139, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050021", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3139", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483430368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483430368" } ], "glycoeffect": [], "start_pos": 3139, "end_pos": 3139, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050022", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3139", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775335004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775335004" }, { "id": "rs775335004", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775335004" }, { "id": "rs775335004", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775335004#frequency_tab" }, { "id": "rs775335004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775335004" } ], "glycoeffect": [], "start_pos": 313, "end_pos": 313, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096915", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R313", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775335004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775335004" }, { "id": "rs775335004", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775335004" }, { "id": "rs775335004", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775335004#frequency_tab" }, { "id": "rs775335004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775335004" } ], "glycoeffect": [], "start_pos": 313, "end_pos": 313, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096915", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R313", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775335004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775335004" }, { "id": "rs775335004", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775335004" }, { "id": "rs775335004", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775335004#frequency_tab" }, { "id": "rs775335004", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775335004" }, { "id": "rs775335004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775335004" } ], "glycoeffect": [], "start_pos": 313, "end_pos": 313, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32096915", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R313", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs534795841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534795841" }, { "id": "rs534795841", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534795841" }, { "id": "rs534795841", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534795841" } ], "glycoeffect": [], "start_pos": 313, "end_pos": 313, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096916", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R313", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1346083761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346083761" }, { "id": "rs1346083761", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1346083761#frequency_tab" } ], "glycoeffect": [], "start_pos": 3140, "end_pos": 3140, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050018", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774592301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774592301" }, { "id": "rs774592301", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774592301" }, { "id": "rs774592301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774592301" } ], "glycoeffect": [], "start_pos": 3140, "end_pos": 3140, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050019", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200416489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200416489" }, { "id": "rs200416489", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200416489" }, { "id": "rs200416489", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200416489#frequency_tab" }, { "id": "rs200416489", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200416489" }, { "id": "rs200416489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200416489" } ], "glycoeffect": [], "start_pos": 3141, "end_pos": 3141, "sequence_org": "S", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32050016", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "0.000060", "site_lbl": "S3141", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs749671104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749671104" }, { "id": "rs749671104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749671104" }, { "id": "rs749671104", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749671104#frequency_tab" }, { "id": "rs749671104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749671104" } ], "glycoeffect": [], "start_pos": 3142, "end_pos": 3142, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050012", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749671104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749671104" }, { "id": "rs749671104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749671104" }, { "id": "rs749671104", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749671104#frequency_tab" }, { "id": "rs749671104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749671104" } ], "glycoeffect": [], "start_pos": 3142, "end_pos": 3142, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050012", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775795859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775795859" }, { "id": "rs775795859", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775795859" }, { "id": "rs775795859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775795859#frequency_tab" }, { "id": "rs775795859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775795859" } ], "glycoeffect": [], "start_pos": 3143, "end_pos": 3143, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050009", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775795859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775795859" }, { "id": "rs775795859", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775795859" }, { "id": "rs775795859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775795859#frequency_tab" }, { "id": "rs775795859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775795859" } ], "glycoeffect": [], "start_pos": 3143, "end_pos": 3143, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050009", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1751508466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1751508466" }, { "id": "rs1751508466", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1751508466#frequency_tab" } ], "glycoeffect": [], "start_pos": 3143, "end_pos": 3143, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050010", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs770332215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770332215" }, { "id": "rs770332215", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770332215" }, { "id": "rs770332215", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770332215#frequency_tab" }, { "id": "rs770332215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770332215" }, { "id": "rs770332215", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770332215" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3146, "end_pos": 3146, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32050000", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T3146", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1811097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1811097" }, { "id": "rs1811097", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1811097" } ], "glycoeffect": [], "start_pos": 3146, "end_pos": 3146, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32050001", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777137832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777137832" }, { "id": "rs1777137832", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777137832" }, { "id": "rs1777137832", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777137832" } ], "glycoeffect": [], "start_pos": 3149, "end_pos": 3149, "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049580", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3149", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1366588920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366588920" }, { "id": "rs1366588920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366588920" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3150, "end_pos": 3150, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049578", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3151, "end_pos": 3151, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049575", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3151", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs533227887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533227887" }, { "id": "rs533227887", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs533227887" }, { "id": "rs533227887", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533227887" }, { "id": "rs533227887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs533227887#frequency_tab" }, { "id": "rs533227887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs533227887" } ], "glycoeffect": [], "start_pos": 3152, "end_pos": 3152, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049572", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S3152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763407660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763407660" }, { "id": "rs763407660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763407660#frequency_tab" }, { "id": "rs763407660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763407660" }, { "id": "rs763407660", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763407660" } ], "glycoeffect": [], "start_pos": 3153, "end_pos": 3153, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049569", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3153", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs763407660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763407660" }, { "id": "rs763407660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763407660#frequency_tab" }, { "id": "rs763407660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763407660" } ], "glycoeffect": [], "start_pos": 3153, "end_pos": 3153, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049569", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3153", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1248855020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248855020" }, { "id": "rs1248855020", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1248855020#frequency_tab" }, { "id": "rs1248855020", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248855020" } ], "glycoeffect": [], "start_pos": 3155, "end_pos": 3155, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049562", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777136146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777136146" }, { "id": "rs1777136146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777136146#frequency_tab" } ], "glycoeffect": [], "start_pos": 3155, "end_pos": 3155, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049563", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3156, "end_pos": 3156, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049560", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P3156", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs200111122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200111122" }, { "id": "rs200111122", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200111122" }, { "id": "rs200111122", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200111122" }, { "id": "rs200111122", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200111122#frequency_tab" }, { "id": "rs200111122", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200111122" } ], "glycoeffect": [], "start_pos": 3156, "end_pos": 3156, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049560", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3156", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777135673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777135673" }, { "id": "rs1777135673", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777135673" } ], "glycoeffect": [], "start_pos": 3156, "end_pos": 3156, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049561", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3156", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753765413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753765413" }, { "id": "rs753765413", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753765413" }, { "id": "rs753765413", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753765413" } ], "glycoeffect": [], "start_pos": 3159, "end_pos": 3159, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049551", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779872861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779872861" }, { "id": "rs779872861", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779872861" }, { "id": "rs779872861", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779872861" } ], "glycoeffect": [], "start_pos": 3160, "end_pos": 3160, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049549", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs757265209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757265209" }, { "id": "rs757265209", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757265209" }, { "id": "rs757265209", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757265209#frequency_tab" }, { "id": "rs757265209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757265209" }, { "id": "rs757265209", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs757265209" } ], "glycoeffect": [], "start_pos": 3161, "end_pos": 3161, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049545", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3161", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs757265209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757265209" }, { "id": "rs757265209", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757265209" }, { "id": "rs757265209", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757265209#frequency_tab" }, { "id": "rs757265209", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs757265209" }, { "id": "rs757265209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757265209" } ], "glycoeffect": [], "start_pos": 3161, "end_pos": 3161, "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32049545", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P3161", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs757265209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757265209" }, { "id": "rs757265209", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757265209" }, { "id": "rs757265209", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757265209#frequency_tab" }, { "id": "rs757265209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757265209" }, { "id": "rs757265209", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs757265209" } ], "glycoeffect": [], "start_pos": 3161, "end_pos": 3161, "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049545", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3161", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3162, "end_pos": 3162, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049542", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E3162", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777132962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777132962" }, { "id": "rs1777132962", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777132962" } ], "glycoeffect": [], "start_pos": 3162, "end_pos": 3162, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049543", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs561810058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561810058" }, { "id": "rs561810058", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561810058" }, { "id": "rs561810058", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561810058" }, { "id": "rs561810058", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs561810058#frequency_tab" }, { "id": "rs561810058", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561810058" } ], "glycoeffect": [], "start_pos": 3163, "end_pos": 3163, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049539", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.00137363", "site_lbl": "A3163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764219099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764219099" }, { "id": "rs764219099", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764219099" }, { "id": "rs764219099", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764219099" }, { "id": "rs764219099", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764219099" } ], "glycoeffect": [], "start_pos": 3163, "end_pos": 3163, "sequence_org": "A", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049540", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3163", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs561810058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561810058" }, { "id": "rs561810058", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561810058" }, { "id": "rs561810058", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561810058" }, { "id": "rs561810058", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs561810058#frequency_tab" }, { "id": "rs561810058", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561810058" } ], "glycoeffect": [], "start_pos": 3163, "end_pos": 3163, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049539", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00137363", "site_lbl": "A3163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777132222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777132222" }, { "id": "rs1777132222", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777132222" } ], "glycoeffect": [], "start_pos": 3164, "end_pos": 3164, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049537", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs765598398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765598398" }, { "id": "rs765598398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765598398" }, { "id": "rs765598398", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765598398#frequency_tab" }, { "id": "rs765598398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765598398" }, { "id": "rs765598398", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765598398" } ], "glycoeffect": [], "start_pos": 3165, "end_pos": 3165, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049534", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3165", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs765598398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765598398" }, { "id": "rs765598398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765598398" }, { "id": "rs765598398", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765598398#frequency_tab" }, { "id": "rs765598398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765598398" } ], "glycoeffect": [], "start_pos": 3165, "end_pos": 3165, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049534", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1368647877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368647877" }, { "id": "rs1368647877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1368647877" } ], "glycoeffect": [], "start_pos": 3166, "end_pos": 3166, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049529", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151892576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151892576" }, { "id": "rs2151892576", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151892576" } ], "glycoeffect": [], "start_pos": 3166, "end_pos": 3166, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049530", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151892569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151892569" } ], "glycoeffect": [], "start_pos": 3166, "end_pos": 3166, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049528_32049529", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759839720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759839720" }, { "id": "rs759839720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759839720" }, { "id": "rs759839720", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759839720#frequency_tab" }, { "id": "rs759839720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759839720" }, { "id": "rs759839720", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759839720" } ], "glycoeffect": [], "start_pos": 3167, "end_pos": 3167, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049527", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3167", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs759839720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759839720" }, { "id": "rs759839720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759839720" }, { "id": "rs759839720", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759839720#frequency_tab" }, { "id": "rs759839720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759839720" } ], "glycoeffect": [], "start_pos": 3167, "end_pos": 3167, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049527", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3167", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745505849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745505849" }, { "id": "rs745505849", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745505849" }, { "id": "rs745505849", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745505849#frequency_tab" }, { "id": "rs745505849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745505849" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 316, "end_pos": 316, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096906", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S316", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771567147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771567147" }, { "id": "rs771567147", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771567147" }, { "id": "rs771567147", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771567147" } ], "glycoeffect": [], "start_pos": 3170, "end_pos": 3170, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049518", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151892548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151892548" }, { "id": "rs2151892548", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151892548" } ], "glycoeffect": [], "start_pos": 3171, "end_pos": 3171, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049516", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3171, "end_pos": 3171, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049516", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3171", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs747801447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747801447" }, { "id": "rs747801447", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747801447" }, { "id": "rs747801447", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747801447" } ], "glycoeffect": [], "start_pos": 3174, "end_pos": 3174, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049506", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs771755029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771755029" }, { "id": "rs771755029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771755029" }, { "id": "rs771755029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771755029" } ], "glycoeffect": [], "start_pos": 3174, "end_pos": 3174, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049507", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3174", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs202109631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202109631" }, { "id": "rs202109631", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202109631" }, { "id": "rs202109631", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202109631" }, { "id": "rs202109631", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202109631#frequency_tab" }, { "id": "rs202109631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202109631" } ], "glycoeffect": [], "start_pos": 3175, "end_pos": 3175, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049504", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483425120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483425120" } ], "glycoeffect": [], "start_pos": 3176, "end_pos": 3176, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049500", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3176", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs528173262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528173262" }, { "id": "rs528173262", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528173262" }, { "id": "rs528173262", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528173262" }, { "id": "rs528173262", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs528173262#frequency_tab" }, { "id": "rs528173262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs528173262" }, { "id": "rs528173262", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528173262" } ], "glycoeffect": [], "start_pos": 3176, "end_pos": 3176, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049501", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3176", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs897496931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs897496931" }, { "id": "rs897496931", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs897496931#frequency_tab" } ], "glycoeffect": [], "start_pos": 3179, "end_pos": 3179, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049492", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3179", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756035213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756035213" }, { "id": "rs756035213", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756035213" }, { "id": "rs756035213", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756035213#frequency_tab" }, { "id": "rs756035213", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs756035213" }, { "id": "rs756035213", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756035213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3181, "end_pos": 3181, "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32049485", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "0.000020", "site_lbl": "S3181", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs756035213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756035213" }, { "id": "rs756035213", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756035213" }, { "id": "rs756035213", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756035213#frequency_tab" }, { "id": "rs756035213", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756035213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3181, "end_pos": 3181, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049485", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs890412799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs890412799" }, { "id": "rs890412799", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs890412799#frequency_tab" }, { "id": "rs890412799", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs890412799" }, { "id": "rs890412799", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs890412799" } ], "glycoeffect": [], "start_pos": 3184, "end_pos": 3184, "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049477", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3184", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs890412799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs890412799" }, { "id": "rs890412799", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs890412799#frequency_tab" }, { "id": "rs890412799", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs890412799" } ], "glycoeffect": [], "start_pos": 3184, "end_pos": 3184, "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049477", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3185, "end_pos": 3185, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049473", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3185", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777125708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777125708" }, { "id": "rs1777125708", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777125708" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3185, "end_pos": 3185, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049474", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3185", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777125216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777125216" }, { "id": "rs1777125216", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777125216" } ], "glycoeffect": [], "start_pos": 3186, "end_pos": 3186, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049469", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3186", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1208243428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208243428" }, { "id": "rs1208243428", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1208243428#frequency_tab" }, { "id": "rs1208243428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208243428" } ], "glycoeffect": [], "start_pos": 3186, "end_pos": 3186, "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049471", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3186", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1208243428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208243428" }, { "id": "rs1208243428", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1208243428#frequency_tab" }, { "id": "rs1208243428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208243428" } ], "glycoeffect": [], "start_pos": 3186, "end_pos": 3186, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049471", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3186", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs41258944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41258944" }, { "id": "rs41258944", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41258944" }, { "id": "rs41258944", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41258944" }, { "id": "rs41258944", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41258944#frequency_tab" }, { "id": "rs41258944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41258944" }, { "id": "rs41258944", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41258944" } ], "glycoeffect": [], "start_pos": 3188, "end_pos": 3188, "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049465", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3188", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2483424671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483424671" } ], "glycoeffect": [], "start_pos": 3189, "end_pos": 3189, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049461", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3189", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs975387633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs975387633" }, { "id": "rs975387633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs975387633" } ], "glycoeffect": [], "start_pos": 318, "end_pos": 318, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096900", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs975387633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs975387633" }, { "id": "rs975387633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs975387633" } ], "glycoeffect": [], "start_pos": 318, "end_pos": 318, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096900", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780763293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780763293" }, { "id": "rs780763293", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780763293" }, { "id": "rs780763293", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780763293" } ], "glycoeffect": [], "start_pos": 318, "end_pos": 318, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096901", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765391494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765391494" }, { "id": "rs765391494", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765391494" }, { "id": "rs765391494", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765391494" } ], "glycoeffect": [], "start_pos": 3190, "end_pos": 3190, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049458", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3190", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs60738846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs60738846" }, { "id": "rs60738846", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs60738846" }, { "id": "rs60738846", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs60738846" }, { "id": "rs60738846", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs60738846#frequency_tab" }, { "id": "rs60738846", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs60738846" } ], "glycoeffect": [], "start_pos": 3191, "end_pos": 3191, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049456", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754146329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754146329" }, { "id": "rs754146329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754146329" }, { "id": "rs754146329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754146329" }, { "id": "rs754146329", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754146329" } ], "glycoeffect": [], "start_pos": 3191, "end_pos": 3191, "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049455", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3191", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs766906496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766906496" }, { "id": "rs766906496", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766906496" }, { "id": "rs766906496", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766906496#frequency_tab" }, { "id": "rs766906496", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766906496" } ], "glycoeffect": [], "start_pos": 3192, "end_pos": 3192, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049453", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766906496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766906496" }, { "id": "rs766906496", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766906496" }, { "id": "rs766906496", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766906496#frequency_tab" }, { "id": "rs766906496", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766906496" } ], "glycoeffect": [], "start_pos": 3192, "end_pos": 3192, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049453", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761239593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761239593" }, { "id": "rs761239593", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761239593" }, { "id": "rs761239593", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761239593" } ], "glycoeffect": [], "start_pos": 3192, "end_pos": 3192, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049452", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3192, "end_pos": 3192, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049453", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3192", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs773892921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773892921" }, { "id": "rs773892921", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773892921" }, { "id": "rs773892921", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773892921#frequency_tab" }, { "id": "rs773892921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773892921" } ], "glycoeffect": [], "start_pos": 3193, "end_pos": 3193, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049448", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs200036158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200036158" }, { "id": "rs200036158", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200036158" }, { "id": "rs200036158", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200036158" }, { "id": "rs200036158", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200036158#frequency_tab" }, { "id": "rs200036158", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200036158" }, { "id": "rs200036158", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200036158" } ], "glycoeffect": [], "start_pos": 3194, "end_pos": 3194, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049447", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D3194", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs200036158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200036158" }, { "id": "rs200036158", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200036158" }, { "id": "rs200036158", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200036158" }, { "id": "rs200036158", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200036158#frequency_tab" }, { "id": "rs200036158", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200036158" } ], "glycoeffect": [], "start_pos": 3194, "end_pos": 3194, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049447", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761247663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761247663" }, { "id": "rs761247663", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761247663" }, { "id": "rs761247663", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761247663#frequency_tab" }, { "id": "rs761247663", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761247663" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3195, "end_pos": 3195, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049444", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768193578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768193578" }, { "id": "rs768193578", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768193578" }, { "id": "rs768193578", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768193578#frequency_tab" }, { "id": "rs768193578", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768193578" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3195, "end_pos": 3195, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049443", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768193578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768193578" }, { "id": "rs768193578", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768193578" }, { "id": "rs768193578", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768193578#frequency_tab" }, { "id": "rs768193578", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768193578" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3195, "end_pos": 3195, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049443", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775246444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775246444" }, { "id": "rs775246444", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775246444" }, { "id": "rs775246444", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775246444#frequency_tab" }, { "id": "rs775246444", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775246444" }, { "id": "rs775246444", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775246444" } ], "glycoeffect": [], "start_pos": 3196, "end_pos": 3196, "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049439", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3196", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs769618318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769618318" }, { "id": "rs769618318", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769618318" }, { "id": "rs769618318", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769618318#frequency_tab" }, { "id": "rs769618318", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769618318" } ], "glycoeffect": [], "start_pos": 3196, "end_pos": 3196, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049440", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777121045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777121045" }, { "id": "rs1777121045", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777121045#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3197, "end_pos": 3197, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049438", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3197", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1451232960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1451232960" }, { "id": "rs1451232960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1451232960" }, { "id": "rs1451232960", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1451232960" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3197, "end_pos": 3197, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049437", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3197", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3197, "end_pos": 3197, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049438", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T3197", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483424286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483424286" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3197, "end_pos": 3197, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049438", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3197", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1777120039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777120039" }, { "id": "rs1777120039", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777120039" } ], "glycoeffect": [], "start_pos": 3198, "end_pos": 3198, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049434", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758444812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758444812" }, { "id": "rs758444812", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758444812" }, { "id": "rs758444812", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758444812#frequency_tab" }, { "id": "rs758444812", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758444812" }, { "id": "rs758444812", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758444812" } ], "glycoeffect": [], "start_pos": 3198, "end_pos": 3198, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049435", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3198", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs748181095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748181095" }, { "id": "rs748181095", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748181095" }, { "id": "rs748181095", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748181095#frequency_tab" }, { "id": "rs748181095", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748181095" } ], "glycoeffect": [], "start_pos": 3199, "end_pos": 3199, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049431", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746485634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746485634" }, { "id": "rs746485634", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746485634" }, { "id": "rs746485634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746485634#frequency_tab" }, { "id": "rs746485634", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746485634" } ], "glycoeffect": [], "start_pos": 319, "end_pos": 319, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096897", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G319", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746485634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746485634" }, { "id": "rs746485634", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746485634" }, { "id": "rs746485634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746485634#frequency_tab" }, { "id": "rs746485634", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746485634" } ], "glycoeffect": [], "start_pos": 319, "end_pos": 319, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096897", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G319", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1311482660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311482660" }, { "id": "rs1311482660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311482660" } ], "glycoeffect": [], "start_pos": 319, "end_pos": 319, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096898", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G319", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746485634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746485634" }, { "id": "rs746485634", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746485634" }, { "id": "rs746485634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746485634#frequency_tab" }, { "id": "rs746485634", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746485634" } ], "glycoeffect": [], "start_pos": 319, "end_pos": 319, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096897", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G319", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779113675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779113675" }, { "id": "rs779113675", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779113675" }, { "id": "rs779113675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779113675" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3200, "end_pos": 3200, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049427", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1257919454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257919454" }, { "id": "rs1257919454", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1257919454#frequency_tab" }, { "id": "rs1257919454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257919454" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3200, "end_pos": 3200, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049429", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1288924494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1288924494" }, { "id": "rs1288924494", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1288924494" } ], "glycoeffect": [], "start_pos": 3203, "end_pos": 3203, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049420", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483423961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483423961" } ], "glycoeffect": [], "start_pos": 3203, "end_pos": 3203, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049419", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777117188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777117188" }, { "id": "rs1777117188", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777117188" } ], "glycoeffect": [], "start_pos": 3205, "end_pos": 3205, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049414", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201902411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201902411" }, { "id": "rs201902411", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201902411" }, { "id": "rs201902411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201902411#frequency_tab" }, { "id": "rs201902411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201902411" } ], "glycoeffect": [], "start_pos": 3206, "end_pos": 3206, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049410", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3206", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs372798531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372798531" }, { "id": "rs372798531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372798531" }, { "id": "rs372798531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372798531#frequency_tab" }, { "id": "rs372798531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372798531" } ], "glycoeffect": [], "start_pos": 3207, "end_pos": 3207, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049408", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151892349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151892349" }, { "id": "rs2151892349", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151892349" } ], "glycoeffect": [], "start_pos": 3209, "end_pos": 3209, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049401", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3209, "end_pos": 3209, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049402", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3209", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1160328418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160328418" }, { "id": "rs1160328418", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1160328418" } ], "glycoeffect": [], "start_pos": 320, "end_pos": 320, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096895", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R320", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2483762842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483762842" } ], "glycoeffect": [], "start_pos": 320, "end_pos": 320, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096894", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R320", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs768145699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768145699" }, { "id": "rs768145699", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768145699" }, { "id": "rs768145699", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768145699#frequency_tab" }, { "id": "rs768145699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768145699" } ], "glycoeffect": [], "start_pos": 3210, "end_pos": 3210, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049399", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs41270450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41270450" }, { "id": "rs41270450", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41270450" }, { "id": "rs41270450", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41270450" }, { "id": "rs41270450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41270450#frequency_tab" }, { "id": "rs41270450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41270450" } ], "glycoeffect": [], "start_pos": 3211, "end_pos": 3211, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049396", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0233516", "site_lbl": "R3211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs41270450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41270450" }, { "id": "rs41270450", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41270450" }, { "id": "rs41270450", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41270450" }, { "id": "rs41270450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41270450#frequency_tab" }, { "id": "rs41270450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41270450" } ], "glycoeffect": [], "start_pos": 3211, "end_pos": 3211, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049396", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0233516", "site_lbl": "R3211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304146232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304146232" }, { "id": "rs1304146232", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1304146232#frequency_tab" }, { "id": "rs1304146232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304146232" } ], "glycoeffect": [], "start_pos": 3211, "end_pos": 3211, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049395", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1473257039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473257039" }, { "id": "rs1473257039", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1473257039" } ], "glycoeffect": [], "start_pos": 3212, "end_pos": 3212, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049393", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3212", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs377386505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377386505" }, { "id": "rs377386505", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377386505" }, { "id": "rs377386505", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377386505#frequency_tab" }, { "id": "rs377386505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377386505" } ], "glycoeffect": [], "start_pos": 3213, "end_pos": 3213, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049390", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3213", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs1777114615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777114615" }, { "id": "rs1777114615", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777114615" }, { "id": "rs1777114615", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777114615" } ], "glycoeffect": [], "start_pos": 3213, "end_pos": 3213, "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049389", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3213", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1777114615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777114615" }, { "id": "rs1777114615", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777114615" } ], "glycoeffect": [], "start_pos": 3213, "end_pos": 3213, "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049389", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168959509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168959509" }, { "id": "rs1168959509", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168959509" } ], "glycoeffect": [], "start_pos": 3213, "end_pos": 3213, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049388", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs9267795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9267795" }, { "id": "rs9267795", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9267795" }, { "id": "rs9267795", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9267795" }, { "id": "rs9267795", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9267795#frequency_tab" }, { "id": "rs9267795", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9267795" } ], "glycoeffect": [], "start_pos": 3214, "end_pos": 3214, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049386", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0290424", "site_lbl": "G3214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769529435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769529435" } ], "glycoeffect": [], "start_pos": 3214, "end_pos": 3214, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049387", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769529435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769529435" }, { "id": "rs769529435", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769529435" }, { "id": "rs769529435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769529435" } ], "glycoeffect": [], "start_pos": 3214, "end_pos": 3214, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049387", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs9267795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9267795" }, { "id": "rs9267795", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9267795" }, { "id": "rs9267795", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9267795" }, { "id": "rs9267795", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9267795#frequency_tab" }, { "id": "rs9267795", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9267795" } ], "glycoeffect": [], "start_pos": 3214, "end_pos": 3214, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049386", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0290424", "site_lbl": "G3214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2075563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2075563" }, { "id": "rs2075563", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2075563" }, { "id": "rs2075563", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2075563" }, { "id": "rs2075563", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2075563#frequency_tab" }, { "id": "rs2075563", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2075563" }, { "id": "rs2075563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2075563" } ], "glycoeffect": [], "start_pos": 3215, "end_pos": 3215, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32049384", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "0.01398", "site_lbl": "E3215", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1582348684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582348684" }, { "id": "rs1582348684", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582348684" } ], "glycoeffect": [], "start_pos": 3216, "end_pos": 3216, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049379", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1408994932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408994932" }, { "id": "rs1408994932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1408994932#frequency_tab" }, { "id": "rs1408994932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408994932" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3217, "end_pos": 3217, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049377", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1408994932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408994932" }, { "id": "rs1408994932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1408994932#frequency_tab" }, { "id": "rs1408994932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408994932" } ], "glycoeffect": [], "start_pos": 3217, "end_pos": 3217, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049377", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs973564766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs973564766" }, { "id": "rs973564766", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs973564766#frequency_tab" }, { "id": "rs973564766", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs973564766" } ], "glycoeffect": [], "start_pos": 3218, "end_pos": 3218, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049375", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3218", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370616787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370616787" }, { "id": "rs370616787", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370616787" }, { "id": "rs370616787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370616787#frequency_tab" }, { "id": "rs370616787", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370616787" } ], "glycoeffect": [], "start_pos": 321, "end_pos": 321, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096892", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C321", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1277167371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1277167371" }, { "id": "rs1277167371", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1277167371#frequency_tab" }, { "id": "rs1277167371", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1277167371" } ], "glycoeffect": [], "start_pos": 321, "end_pos": 321, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096891", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C321", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3220, "end_pos": 3220, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049368", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T3220", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs367685759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367685759" }, { "id": "rs367685759", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs367685759" }, { "id": "rs367685759", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367685759" }, { "id": "rs367685759", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367685759#frequency_tab" }, { "id": "rs367685759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367685759" } ], "glycoeffect": [], "start_pos": 3221, "end_pos": 3221, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049366", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367685759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367685759" }, { "id": "rs367685759", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs367685759" }, { "id": "rs367685759", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367685759" }, { "id": "rs367685759", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367685759#frequency_tab" }, { "id": "rs367685759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367685759" }, { "id": "rs367685759", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs367685759" } ], "glycoeffect": [], "start_pos": 3221, "end_pos": 3221, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049366", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3221", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs1340501591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1340501591" }, { "id": "rs1340501591", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1340501591" }, { "id": "rs1340501591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1340501591" } ], "glycoeffect": [], "start_pos": 3222, "end_pos": 3222, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049362", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780442858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780442858" }, { "id": "rs780442858", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780442858" }, { "id": "rs780442858", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780442858#frequency_tab" }, { "id": "rs780442858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780442858" } ], "glycoeffect": [], "start_pos": 3222, "end_pos": 3222, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049363", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3222", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs780442858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780442858" }, { "id": "rs780442858", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780442858" }, { "id": "rs780442858", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780442858#frequency_tab" }, { "id": "rs780442858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780442858" }, { "id": "rs780442858", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780442858" } ], "glycoeffect": [], "start_pos": 3222, "end_pos": 3222, "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049363", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3222", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1307234916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307234916" }, { "id": "rs1307234916", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1307234916#frequency_tab" }, { "id": "rs1307234916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307234916" } ], "glycoeffect": [], "start_pos": 3223, "end_pos": 3223, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049360", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1274470534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274470534" }, { "id": "rs1274470534", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274470534" } ], "glycoeffect": [], "start_pos": 3223, "end_pos": 3223, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049359", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773500008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773500008" } ], "glycoeffect": [], "start_pos": 3223, "end_pos": 3223, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049364", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3223", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3224, "end_pos": 3224, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049356", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L3224", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs773500008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773500008" } ], "glycoeffect": [], "start_pos": 3224, "end_pos": 3224, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049364", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750816311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750816311" }, { "id": "rs750816311", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750816311" }, { "id": "rs750816311", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750816311#frequency_tab" }, { "id": "rs750816311", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750816311" } ], "glycoeffect": [], "start_pos": 3225, "end_pos": 3225, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049354", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1393834431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393834431" }, { "id": "rs1393834431", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393834431" } ], "glycoeffect": [], "start_pos": 3226, "end_pos": 3226, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049350", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3226", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1393834431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393834431" }, { "id": "rs1393834431", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393834431" } ], "glycoeffect": [], "start_pos": 3226, "end_pos": 3226, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049350", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3226", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777109009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777109009" }, { "id": "rs1777109009", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777109009" } ], "glycoeffect": [], "start_pos": 3226, "end_pos": 3226, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049351", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3226", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752152483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752152483" }, { "id": "rs752152483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752152483" }, { "id": "rs752152483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752152483#frequency_tab" }, { "id": "rs752152483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752152483" } ], "glycoeffect": [], "start_pos": 3227, "end_pos": 3227, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049348", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1472848236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472848236" }, { "id": "rs1472848236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1472848236" } ], "glycoeffect": [], "start_pos": 3228, "end_pos": 3228, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049345", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs764846659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764846659" }, { "id": "rs764846659", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764846659#frequency_tab" }, { "id": "rs764846659", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764846659" }, { "id": "rs764846659", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764846659" } ], "glycoeffect": [], "start_pos": 3228, "end_pos": 3228, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049344", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3228", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs764846659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764846659" }, { "id": "rs764846659", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764846659#frequency_tab" }, { "id": "rs764846659", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764846659" } ], "glycoeffect": [], "start_pos": 3228, "end_pos": 3228, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049344", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1238701049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238701049" }, { "id": "rs1238701049", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238701049" } ], "glycoeffect": [], "start_pos": 322, "end_pos": 322, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096889", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777106744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777106744" }, { "id": "rs1777106744", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777106744#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3230, "end_pos": 3230, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049338", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3230", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777106744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777106744" }, { "id": "rs1777106744", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777106744#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3230, "end_pos": 3230, "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049338", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3230", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762546631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762546631" }, { "id": "rs762546631", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762546631" }, { "id": "rs762546631", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762546631#frequency_tab" }, { "id": "rs762546631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762546631" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3230, "end_pos": 3230, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049339", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3230", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1370169851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370169851" }, { "id": "rs1370169851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370169851" }, { "id": "rs1370169851", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1370169851" } ], "glycoeffect": [], "start_pos": 3231, "end_pos": 3231, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049336", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K3231", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1162730297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1162730297" }, { "id": "rs1162730297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1162730297" } ], "glycoeffect": [], "start_pos": 3231, "end_pos": 3231, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049334", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1370169851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370169851" } ], "glycoeffect": [], "start_pos": 3231, "end_pos": 3231, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049336", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252743027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252743027" }, { "id": "rs1252743027", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252743027" } ], "glycoeffect": [], "start_pos": 3232, "end_pos": 3232, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049331", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3232", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752290273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752290273" }, { "id": "rs752290273", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752290273" }, { "id": "rs752290273", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752290273#frequency_tab" }, { "id": "rs752290273", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752290273" } ], "glycoeffect": [], "start_pos": 3232, "end_pos": 3232, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049333", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3232", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs573579857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573579857" }, { "id": "rs573579857", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573579857" }, { "id": "rs573579857", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs573579857#frequency_tab" }, { "id": "rs573579857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs573579857" } ], "glycoeffect": [], "start_pos": 3236, "end_pos": 3236, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049321", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs569117448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569117448" }, { "id": "rs569117448", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs569117448" }, { "id": "rs569117448", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs569117448#frequency_tab" }, { "id": "rs569117448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs569117448" } ], "glycoeffect": [], "start_pos": 3236, "end_pos": 3236, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049320", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G3236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs573579857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573579857" }, { "id": "rs573579857", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573579857" }, { "id": "rs573579857", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs573579857#frequency_tab" }, { "id": "rs573579857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs573579857" } ], "glycoeffect": [], "start_pos": 3236, "end_pos": 3236, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049321", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1341085206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341085206" }, { "id": "rs1341085206", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1341085206#frequency_tab" }, { "id": "rs1341085206", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1341085206" } ], "glycoeffect": [], "start_pos": 3237, "end_pos": 3237, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049318", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L3237", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs760495650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760495650" }, { "id": "rs760495650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760495650" }, { "id": "rs760495650", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760495650#frequency_tab" }, { "id": "rs760495650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760495650" } ], "glycoeffect": [], "start_pos": 3238, "end_pos": 3238, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049313", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3238, "end_pos": 3238, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049314", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H3238", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs1777102832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777102832" }, { "id": "rs1777102832", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777102832" }, { "id": "rs1777102832", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777102832" } ], "glycoeffect": [], "start_pos": 3239, "end_pos": 3239, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049312", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3239", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2483422377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483422377" } ], "glycoeffect": [], "start_pos": 3239, "end_pos": 3239, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049311", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3239", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758913514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758913514" }, { "id": "rs758913514", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758913514" }, { "id": "rs758913514", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758913514" } ], "glycoeffect": [], "start_pos": 323, "end_pos": 323, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096884", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1208015489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208015489" }, { "id": "rs1208015489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208015489" } ], "glycoeffect": [], "start_pos": 323, "end_pos": 323, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096885", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780426227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780426227" }, { "id": "rs1780426227", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780426227" } ], "glycoeffect": [], "start_pos": 323, "end_pos": 323, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096886", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1268584996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268584996" }, { "id": "rs1268584996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1268584996#frequency_tab" }, { "id": "rs1268584996", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268584996" } ], "glycoeffect": [], "start_pos": 3241, "end_pos": 3241, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049306", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773228846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773228846" }, { "id": "rs773228846", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773228846" }, { "id": "rs773228846", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773228846" }, { "id": "rs773228846", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773228846" } ], "glycoeffect": [], "start_pos": 3241, "end_pos": 3241, "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049305", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3241", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768567585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768567585" }, { "id": "rs768567585", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768567585" }, { "id": "rs768567585", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768567585" }, { "id": "rs768567585", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768567585" } ], "glycoeffect": [], "start_pos": 3242, "end_pos": 3242, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049303", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3242", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs374187712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374187712" }, { "id": "rs374187712", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374187712" }, { "id": "rs374187712", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374187712#frequency_tab" }, { "id": "rs374187712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374187712" } ], "glycoeffect": [], "start_pos": 3242, "end_pos": 3242, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049302", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770130227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770130227" } ], "glycoeffect": [], "start_pos": 3243, "end_pos": 3243, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049300", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3243", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770130227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770130227" }, { "id": "rs770130227", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770130227" }, { "id": "rs770130227", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770130227#frequency_tab" }, { "id": "rs770130227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770130227" }, { "id": "rs770130227", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770130227" } ], "glycoeffect": [], "start_pos": 3243, "end_pos": 3243, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049300", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3243", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs746145581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746145581" }, { "id": "rs746145581", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746145581" }, { "id": "rs746145581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746145581" } ], "glycoeffect": [], "start_pos": 3244, "end_pos": 3244, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049297", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746145581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746145581" }, { "id": "rs746145581", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746145581" }, { "id": "rs746145581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746145581" } ], "glycoeffect": [], "start_pos": 3244, "end_pos": 3244, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049297", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1460927019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460927019" }, { "id": "rs1460927019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460927019" } ], "glycoeffect": [], "start_pos": 3244, "end_pos": 3244, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049296", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs550641419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550641419" }, { "id": "rs550641419", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550641419" }, { "id": "rs550641419", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550641419" }, { "id": "rs550641419", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550641419#frequency_tab" }, { "id": "rs550641419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550641419" } ], "glycoeffect": [], "start_pos": 3246, "end_pos": 3246, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049291", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V3246", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs550641419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550641419" }, { "id": "rs550641419", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550641419" }, { "id": "rs550641419", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550641419" }, { "id": "rs550641419", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550641419#frequency_tab" }, { "id": "rs550641419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550641419" } ], "glycoeffect": [], "start_pos": 3246, "end_pos": 3246, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049291", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V3246", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs757839364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757839364" }, { "id": "rs757839364", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757839364" }, { "id": "rs757839364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757839364" }, { "id": "rs757839364", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs757839364" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3247, "end_pos": 3247, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049287", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3247", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3247, "end_pos": 3247, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049288", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S3247", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1199980855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1199980855" }, { "id": "rs1199980855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1199980855" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3248, "end_pos": 3248, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049285", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3248", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3248, "end_pos": 3248, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049284", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T3248", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs376344484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376344484" } ], "glycoeffect": [], "start_pos": 3249, "end_pos": 3249, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049282", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376344484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376344484" }, { "id": "rs376344484", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376344484" }, { "id": "rs376344484", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376344484#frequency_tab" }, { "id": "rs376344484", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376344484" } ], "glycoeffect": [], "start_pos": 3249, "end_pos": 3249, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049282", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1380673986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380673986" }, { "id": "rs1380673986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1380673986" } ], "glycoeffect": [], "start_pos": 324, "end_pos": 324, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096883", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1380673986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380673986" }, { "id": "rs1380673986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1380673986" } ], "glycoeffect": [], "start_pos": 324, "end_pos": 324, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096883", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1265813288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1265813288" }, { "id": "rs1265813288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1265813288" } ], "glycoeffect": [], "start_pos": 3250, "end_pos": 3250, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049278", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3250", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1391854136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391854136" }, { "id": "rs1391854136", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1391854136#frequency_tab" } ], "glycoeffect": [], "start_pos": 3251, "end_pos": 3251, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049276", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200942848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200942848" }, { "id": "rs200942848", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200942848" }, { "id": "rs200942848", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200942848" }, { "id": "rs200942848", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200942848#frequency_tab" }, { "id": "rs200942848", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200942848" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3252, "end_pos": 3252, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049272", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00117739", "site_lbl": "T3252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1465799656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465799656" }, { "id": "rs1465799656", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465799656" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3252, "end_pos": 3252, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32049273", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373443964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373443964" }, { "id": "rs373443964", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373443964" }, { "id": "rs373443964", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373443964" } ], "glycoeffect": [], "start_pos": 3253, "end_pos": 3253, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048650", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3253, "end_pos": 3253, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32049270", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3253", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs373443964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373443964" }, { "id": "rs373443964", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373443964" }, { "id": "rs373443964", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373443964" } ], "glycoeffect": [], "start_pos": 3253, "end_pos": 3253, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048650", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3253", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761815974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761815974" }, { "id": "rs761815974", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761815974" }, { "id": "rs761815974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761815974" } ], "glycoeffect": [], "start_pos": 3255, "end_pos": 3255, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048645", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3255", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1392514614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1392514614" }, { "id": "rs1392514614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1392514614" } ], "glycoeffect": [], "start_pos": 3256, "end_pos": 3256, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048641", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774464961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774464961" }, { "id": "rs774464961", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774464961" }, { "id": "rs774464961", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774464961#frequency_tab" }, { "id": "rs774464961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774464961" } ], "glycoeffect": [], "start_pos": 3256, "end_pos": 3256, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048642", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs893970941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs893970941" }, { "id": "rs893970941", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs893970941" } ], "glycoeffect": [], "start_pos": 3258, "end_pos": 3258, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048636", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs753047299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753047299" }, { "id": "rs753047299", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753047299" }, { "id": "rs753047299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753047299" }, { "id": "rs753047299", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753047299" } ], "glycoeffect": [], "start_pos": 325, "end_pos": 325, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096880", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R325", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 325, "end_pos": 325, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096879", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R325", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777060933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777060933" } ], "glycoeffect": [], "start_pos": 3260, "end_pos": 3260, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048630", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3260", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs557119336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557119336" }, { "id": "rs557119336", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557119336" }, { "id": "rs557119336", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557119336" }, { "id": "rs557119336", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs557119336#frequency_tab" }, { "id": "rs557119336", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557119336" }, { "id": "rs557119336", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557119336" } ], "glycoeffect": [], "start_pos": 3260, "end_pos": 3260, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048629", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3260", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1777060933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777060933" }, { "id": "rs1777060933", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777060933#frequency_tab" }, { "id": "rs1777060933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777060933" } ], "glycoeffect": [], "start_pos": 3260, "end_pos": 3260, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048630", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3260", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463606727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463606727" }, { "id": "rs1463606727", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1463606727#frequency_tab" }, { "id": "rs1463606727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463606727" } ], "glycoeffect": [], "start_pos": 3261, "end_pos": 3261, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048626", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773601561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773601561" }, { "id": "rs773601561", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773601561" }, { "id": "rs773601561", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773601561" }, { "id": "rs773601561", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773601561" } ], "glycoeffect": [], "start_pos": 3261, "end_pos": 3261, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048627", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3261", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1208287986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208287986" }, { "id": "rs1208287986", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1208287986#frequency_tab" }, { "id": "rs1208287986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208287986" } ], "glycoeffect": [], "start_pos": 3262, "end_pos": 3262, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048624", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3262", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1208287986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208287986" }, { "id": "rs1208287986", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1208287986#frequency_tab" }, { "id": "rs1208287986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208287986" } ], "glycoeffect": [], "start_pos": 3262, "end_pos": 3262, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048624", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3262", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1209829098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209829098" }, { "id": "rs1209829098", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209829098" } ], "glycoeffect": [], "start_pos": 3263, "end_pos": 3263, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048621", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3263", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1209829098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209829098" }, { "id": "rs1209829098", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209829098" } ], "glycoeffect": [], "start_pos": 3263, "end_pos": 3263, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048621", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3263", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs535345246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535345246" }, { "id": "rs535345246", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs535345246" }, { "id": "rs535345246", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535345246" }, { "id": "rs535345246", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs535345246#frequency_tab" }, { "id": "rs535345246", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs535345246" } ], "glycoeffect": [], "start_pos": 3264, "end_pos": 3264, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048618", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "R3264", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369185486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369185486" }, { "id": "rs369185486", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369185486" }, { "id": "rs369185486", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369185486" }, { "id": "rs369185486", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369185486#frequency_tab" }, { "id": "rs369185486", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369185486" } ], "glycoeffect": [], "start_pos": 3264, "end_pos": 3264, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048617", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R3264", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1338731371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338731371" }, { "id": "rs1338731371", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1338731371" } ], "glycoeffect": [], "start_pos": 3266, "end_pos": 3266, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048611", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3266", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs546162325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546162325" }, { "id": "rs546162325", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs546162325" }, { "id": "rs546162325", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546162325" }, { "id": "rs546162325", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs546162325" } ], "glycoeffect": [], "start_pos": 3267, "end_pos": 3267, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048607", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3267", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754423187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754423187" }, { "id": "rs754423187", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754423187" }, { "id": "rs754423187", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754423187#frequency_tab" }, { "id": "rs754423187", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754423187" } ], "glycoeffect": [], "start_pos": 3267, "end_pos": 3267, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048609", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3267", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1353749528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1353749528" }, { "id": "rs1353749528", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1353749528#frequency_tab" }, { "id": "rs1353749528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1353749528" } ], "glycoeffect": [], "start_pos": 3269, "end_pos": 3269, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048603", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3269", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1353749528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1353749528" }, { "id": "rs1353749528", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1353749528#frequency_tab" }, { "id": "rs1353749528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1353749528" } ], "glycoeffect": [], "start_pos": 3269, "end_pos": 3269, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048603", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3269", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368984634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368984634" }, { "id": "rs368984634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368984634#frequency_tab" }, { "id": "rs368984634", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368984634" }, { "id": "rs368984634", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368984634" } ], "glycoeffect": [], "start_pos": 3269, "end_pos": 3269, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048602", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3269", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1777056382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777056382" }, { "id": "rs1777056382", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777056382" } ], "glycoeffect": [], "start_pos": 3270, "end_pos": 3270, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048599", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3270", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3270, "end_pos": 3270, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048599", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V3270", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs377113619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377113619" }, { "id": "rs377113619", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377113619" }, { "id": "rs377113619", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377113619" } ], "glycoeffect": [], "start_pos": 3270, "end_pos": 3270, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048600", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3270", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377113619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377113619" }, { "id": "rs377113619", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377113619" }, { "id": "rs377113619", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377113619" } ], "glycoeffect": [], "start_pos": 3270, "end_pos": 3270, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048600", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3270", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2856444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2856444" }, { "id": "rs2856444", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2856444" }, { "id": "rs2856444", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2856444#frequency_tab" }, { "id": "rs2856444", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2856444" } ], "glycoeffect": [], "start_pos": 3271, "end_pos": 3271, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048596", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562787554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562787554" }, { "id": "rs1562787554", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562787554" } ], "glycoeffect": [], "start_pos": 3271, "end_pos": 3271, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048597", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2856444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2856444" }, { "id": "rs2856444", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2856444" }, { "id": "rs2856444", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2856444#frequency_tab" }, { "id": "rs2856444", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2856444" } ], "glycoeffect": [], "start_pos": 3271, "end_pos": 3271, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048596", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A3271", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs757144992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757144992" }, { "id": "rs757144992", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757144992" }, { "id": "rs757144992", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757144992#frequency_tab" }, { "id": "rs757144992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757144992" } ], "glycoeffect": [], "start_pos": 3272, "end_pos": 3272, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048594", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3272", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757144992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757144992" }, { "id": "rs757144992", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757144992" }, { "id": "rs757144992", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757144992#frequency_tab" }, { "id": "rs757144992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757144992" } ], "glycoeffect": [], "start_pos": 3272, "end_pos": 3272, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048594", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3272", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3272, "end_pos": 3272, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048593", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A3272", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1473507178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473507178" }, { "id": "rs1473507178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1473507178" } ], "glycoeffect": [], "start_pos": 3273, "end_pos": 3273, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048591", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3273", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs999835069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs999835069" }, { "id": "rs999835069", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs999835069#frequency_tab" }, { "id": "rs999835069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs999835069" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3275, "end_pos": 3275, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048584", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3275", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1163224739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1163224739" }, { "id": "rs1163224739", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1163224739#frequency_tab" }, { "id": "rs1163224739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1163224739" } ], "glycoeffect": [], "start_pos": 3276, "end_pos": 3276, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048581", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3276", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1253687031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253687031" }, { "id": "rs1253687031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253687031" } ], "glycoeffect": [], "start_pos": 3276, "end_pos": 3276, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048582", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3276", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764131767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764131767" }, { "id": "rs764131767", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764131767" }, { "id": "rs764131767", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764131767" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3277, "end_pos": 3277, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048578", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3277", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762868205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762868205" }, { "id": "rs762868205", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762868205" }, { "id": "rs762868205", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762868205" } ], "glycoeffect": [], "start_pos": 3278, "end_pos": 3278, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048576", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3278", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3278, "end_pos": 3278, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048576", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3278", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs779419589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779419589" }, { "id": "rs779419589", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779419589" }, { "id": "rs779419589", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779419589" } ], "glycoeffect": [], "start_pos": 327, "end_pos": 327, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096874", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V327", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs779419589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779419589" }, { "id": "rs779419589", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779419589" }, { "id": "rs779419589", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779419589" }, { "id": "rs779419589", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779419589" } ], "glycoeffect": [], "start_pos": 327, "end_pos": 327, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096874", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V327", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3280, "end_pos": 3280, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048570", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L3280", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3282, "end_pos": 3282, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048563", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W3282", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1332781907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332781907" }, { "id": "rs1332781907", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332781907" } ], "glycoeffect": [], "start_pos": 3282, "end_pos": 3282, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048564", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766417313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766417313" }, { "id": "rs766417313", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766417313" }, { "id": "rs766417313", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766417313" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3283, "end_pos": 3283, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048560", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3283", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1387215499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387215499" }, { "id": "rs1387215499", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1387215499" } ], "glycoeffect": [], "start_pos": 3284, "end_pos": 3284, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048557", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3284", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs982856078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs982856078" }, { "id": "rs982856078", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs982856078#frequency_tab" } ], "glycoeffect": [], "start_pos": 3284, "end_pos": 3284, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048558", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3284", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs982856078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs982856078" }, { "id": "rs982856078", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs982856078#frequency_tab" } ], "glycoeffect": [], "start_pos": 3284, "end_pos": 3284, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048558", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3284", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1352618334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1352618334" }, { "id": "rs1352618334", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1352618334" } ], "glycoeffect": [], "start_pos": 3285, "end_pos": 3285, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048555", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3285", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372290997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372290997" }, { "id": "rs372290997", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372290997" }, { "id": "rs372290997", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372290997#frequency_tab" }, { "id": "rs372290997", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372290997" } ], "glycoeffect": [], "start_pos": 3286, "end_pos": 3286, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048552", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3286", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372290997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372290997" }, { "id": "rs372290997", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372290997" }, { "id": "rs372290997", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372290997#frequency_tab" }, { "id": "rs372290997", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372290997" } ], "glycoeffect": [], "start_pos": 3286, "end_pos": 3286, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048552", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3286", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441976107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441976107" }, { "id": "rs1441976107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441976107" } ], "glycoeffect": [], "start_pos": 3286, "end_pos": 3286, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048551", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3286", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483416450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483416450" } ], "glycoeffect": [], "start_pos": 3288, "end_pos": 3288, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048546", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3288", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151891040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151891040" }, { "id": "rs2151891040", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151891040" } ], "glycoeffect": [], "start_pos": 3290, "end_pos": 3290, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048540", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3290", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1326126524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326126524" }, { "id": "rs1326126524", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1326126524" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3291, "end_pos": 3291, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048537", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1056280227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1056280227" }, { "id": "rs1056280227", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1056280227" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3291, "end_pos": 3291, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048536", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3291, "end_pos": 3291, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048536", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3291", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1777050599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777050599" }, { "id": "rs1777050599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777050599#frequency_tab" }, { "id": "rs1777050599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777050599" } ], "glycoeffect": [], "start_pos": 3293, "end_pos": 3293, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048530", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3293", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777049984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777049984" }, { "id": "rs1777049984", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777049984#frequency_tab" } ], "glycoeffect": [], "start_pos": 3294, "end_pos": 3294, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048527", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777050176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777050176" }, { "id": "rs1777050176", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777050176#frequency_tab" } ], "glycoeffect": [], "start_pos": 3294, "end_pos": 3294, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048528", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1391645588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391645588" }, { "id": "rs1391645588", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391645588" } ], "glycoeffect": [], "start_pos": 3295, "end_pos": 3295, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048525", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3295", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777049585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777049585" }, { "id": "rs1777049585", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777049585#frequency_tab" }, { "id": "rs1777049585", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777049585" } ], "glycoeffect": [], "start_pos": 3297, "end_pos": 3297, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048519", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3297", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367794555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367794555" }, { "id": "rs367794555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367794555#frequency_tab" } ], "glycoeffect": [], "start_pos": 3298, "end_pos": 3298, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048515", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3298", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs367794555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367794555" }, { "id": "rs367794555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367794555#frequency_tab" } ], "glycoeffect": [], "start_pos": 3298, "end_pos": 3298, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048515", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D3298", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777048838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777048838" }, { "id": "rs1777048838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777048838#frequency_tab" }, { "id": "rs1777048838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777048838" } ], "glycoeffect": [], "start_pos": 3299, "end_pos": 3299, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048513", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777048838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777048838" }, { "id": "rs1777048838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777048838#frequency_tab" }, { "id": "rs1777048838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777048838" } ], "glycoeffect": [], "start_pos": 3299, "end_pos": 3299, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048513", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs774770198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774770198" }, { "id": "rs774770198", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774770198" }, { "id": "rs774770198", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774770198" }, { "id": "rs774770198", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774770198" } ], "glycoeffect": [], "start_pos": 3299, "end_pos": 3299, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048512", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A3299", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1424686314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424686314" }, { "id": "rs1424686314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424686314" } ], "glycoeffect": [], "start_pos": 329, "end_pos": 329, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096866", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D329", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1467494733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467494733" }, { "id": "rs1467494733", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467494733" }, { "id": "rs1467494733", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1467494733" } ], "glycoeffect": [], "start_pos": 329, "end_pos": 329, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096868", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D329", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs776725505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776725505" }, { "id": "rs776725505", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776725505" }, { "id": "rs776725505", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776725505#frequency_tab" }, { "id": "rs776725505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776725505" } ], "glycoeffect": [], "start_pos": 3300, "end_pos": 3300, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048509", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3300", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777047965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777047965" }, { "id": "rs1777047965", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777047965#frequency_tab" } ], "glycoeffect": [], "start_pos": 3301, "end_pos": 3301, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048507", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3301", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483415899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483415899" } ], "glycoeffect": [], "start_pos": 3302, "end_pos": 3302, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048503", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3302", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3303, "end_pos": 3303, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048501", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3303", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3304, "end_pos": 3304, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048496", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q3304", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1037970978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1037970978" }, { "id": "rs1037970978", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1037970978#frequency_tab" }, { "id": "rs1037970978", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1037970978" } ], "glycoeffect": [], "start_pos": 3304, "end_pos": 3304, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048497", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3304", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1272603866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272603866" }, { "id": "rs1272603866", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1272603866#frequency_tab" }, { "id": "rs1272603866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1272603866" } ], "glycoeffect": [], "start_pos": 3305, "end_pos": 3305, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048495", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777046567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777046567" }, { "id": "rs1777046567", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777046567#frequency_tab" } ], "glycoeffect": [], "start_pos": 3307, "end_pos": 3307, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048488", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373570565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373570565" }, { "id": "rs373570565", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373570565#frequency_tab" }, { "id": "rs373570565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373570565" } ], "glycoeffect": [], "start_pos": 330, "end_pos": 330, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096865", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1426864732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1426864732" }, { "id": "rs1426864732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1426864732" } ], "glycoeffect": [], "start_pos": 330, "end_pos": 330, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096864", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1305164810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305164810" } ], "glycoeffect": [], "start_pos": 3310, "end_pos": 3310, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048479", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1305164810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305164810" }, { "id": "rs1305164810", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1305164810" }, { "id": "rs1305164810", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1305164810" } ], "glycoeffect": [], "start_pos": 3310, "end_pos": 3310, "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048479", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3310", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs769223462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769223462" }, { "id": "rs769223462", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769223462" }, { "id": "rs769223462", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769223462#frequency_tab" }, { "id": "rs769223462", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769223462" } ], "glycoeffect": [], "start_pos": 3310, "end_pos": 3310, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048480", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1777045277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777045277" }, { "id": "rs1777045277", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777045277#frequency_tab" }, { "id": "rs1777045277", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1777045277" } ], "glycoeffect": [], "start_pos": 3312, "end_pos": 3312, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048473", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L3312", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1777045512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777045512" }, { "id": "rs1777045512", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777045512" } ], "glycoeffect": [], "start_pos": 3312, "end_pos": 3312, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048474", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3312", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2483415527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483415527" } ], "glycoeffect": [], "start_pos": 3313, "end_pos": 3313, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048471", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3313", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs745479525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745479525" }, { "id": "rs745479525", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745479525" }, { "id": "rs745479525", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745479525#frequency_tab" }, { "id": "rs745479525", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745479525" } ], "glycoeffect": [], "start_pos": 3313, "end_pos": 3313, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048470", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3313", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781006617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781006617" }, { "id": "rs781006617", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781006617" }, { "id": "rs781006617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781006617#frequency_tab" }, { "id": "rs781006617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781006617" } ], "glycoeffect": [], "start_pos": 3314, "end_pos": 3314, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048468", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781006617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781006617" }, { "id": "rs781006617", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781006617" }, { "id": "rs781006617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781006617#frequency_tab" }, { "id": "rs781006617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781006617" } ], "glycoeffect": [], "start_pos": 3314, "end_pos": 3314, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048468", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757045718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757045718" }, { "id": "rs757045718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757045718" }, { "id": "rs757045718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757045718" } ], "glycoeffect": [], "start_pos": 3314, "end_pos": 3314, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048467", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3314", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1180875039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180875039" }, { "id": "rs1180875039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1180875039#frequency_tab" } ], "glycoeffect": [], "start_pos": 3315, "end_pos": 3315, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048465", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3315", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201452909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201452909" }, { "id": "rs201452909", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201452909" }, { "id": "rs201452909", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201452909" }, { "id": "rs201452909", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201452909#frequency_tab" }, { "id": "rs201452909", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201452909" } ], "glycoeffect": [], "start_pos": 3316, "end_pos": 3316, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048462", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "A3316", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1346548429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346548429" }, { "id": "rs1346548429", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1346548429#frequency_tab" }, { "id": "rs1346548429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346548429" } ], "glycoeffect": [], "start_pos": 3317, "end_pos": 3317, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048459", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3317", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs552026297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552026297" }, { "id": "rs552026297", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs552026297" }, { "id": "rs552026297", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552026297" }, { "id": "rs552026297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs552026297" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3318, "end_pos": 3318, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048455", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1182479281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182479281" }, { "id": "rs1182479281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182479281" } ], "glycoeffect": [], "start_pos": 331, "end_pos": 331, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096861", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1416077635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416077635" }, { "id": "rs1416077635", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1416077635#frequency_tab" }, { "id": "rs1416077635", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416077635" } ], "glycoeffect": [], "start_pos": 331, "end_pos": 331, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096862", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151890853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151890853" }, { "id": "rs2151890853", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151890853" } ], "glycoeffect": [], "start_pos": 3320, "end_pos": 3320, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048449", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3320", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2856447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2856447" }, { "id": "rs2856447", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2856447" } ], "glycoeffect": [], "start_pos": 3321, "end_pos": 3321, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048445", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3321", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2856446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2856446" }, { "id": "rs2856446", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2856446" } ], "glycoeffect": [], "start_pos": 3321, "end_pos": 3321, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048446", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3321", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367901948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367901948" }, { "id": "rs367901948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367901948" }, { "id": "rs367901948", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367901948#frequency_tab" }, { "id": "rs367901948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367901948" } ], "glycoeffect": [], "start_pos": 3322, "end_pos": 3322, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048443", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367901948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367901948" }, { "id": "rs367901948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367901948" }, { "id": "rs367901948", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367901948#frequency_tab" }, { "id": "rs367901948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367901948" } ], "glycoeffect": [], "start_pos": 3322, "end_pos": 3322, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048443", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1226714972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226714972" }, { "id": "rs1226714972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226714972" } ], "glycoeffect": [], "start_pos": 3322, "end_pos": 3322, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048444", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767727460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767727460" }, { "id": "rs767727460", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767727460" }, { "id": "rs767727460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767727460" } ], "glycoeffect": [], "start_pos": 3323, "end_pos": 3323, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048440", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252332841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252332841" }, { "id": "rs1252332841", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1252332841#frequency_tab" }, { "id": "rs1252332841", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252332841" } ], "glycoeffect": [], "start_pos": 3323, "end_pos": 3323, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048441", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252332841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252332841" }, { "id": "rs1252332841", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1252332841#frequency_tab" }, { "id": "rs1252332841", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252332841" } ], "glycoeffect": [], "start_pos": 3323, "end_pos": 3323, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048441", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767727460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767727460" }, { "id": "rs767727460", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767727460" }, { "id": "rs767727460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767727460" } ], "glycoeffect": [], "start_pos": 3323, "end_pos": 3323, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048440", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768943895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768943895" }, { "id": "rs768943895", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768943895" }, { "id": "rs768943895", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768943895#frequency_tab" }, { "id": "rs768943895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768943895" } ], "glycoeffect": [], "start_pos": 3324, "end_pos": 3324, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048438", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768943895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768943895" }, { "id": "rs768943895", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768943895" }, { "id": "rs768943895", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768943895#frequency_tab" }, { "id": "rs768943895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768943895" } ], "glycoeffect": [], "start_pos": 3324, "end_pos": 3324, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048438", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775887579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775887579" }, { "id": "rs775887579", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775887579" }, { "id": "rs775887579", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775887579#frequency_tab" }, { "id": "rs775887579", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775887579" }, { "id": "rs775887579", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775887579" } ], "glycoeffect": [], "start_pos": 3324, "end_pos": 3324, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048437", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3324", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs775887579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775887579" }, { "id": "rs775887579", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775887579" }, { "id": "rs775887579", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775887579#frequency_tab" }, { "id": "rs775887579", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775887579" } ], "glycoeffect": [], "start_pos": 3324, "end_pos": 3324, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048437", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768943895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768943895" } ], "glycoeffect": [], "start_pos": 3324, "end_pos": 3324, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048438", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3324", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1281137637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281137637" }, { "id": "rs1281137637", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1281137637" } ], "glycoeffect": [], "start_pos": 3325, "end_pos": 3325, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048435", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3325", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777039665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777039665" }, { "id": "rs1777039665", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777039665#frequency_tab" } ], "glycoeffect": [], "start_pos": 3325, "end_pos": 3325, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048434", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3325", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777039262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777039262" }, { "id": "rs1777039262", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777039262#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3326, "end_pos": 3326, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048431", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3326", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777039068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777039068" }, { "id": "rs1777039068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777039068#frequency_tab" } ], "glycoeffect": [], "start_pos": 3327, "end_pos": 3327, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048428", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3327", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3328, "end_pos": 3328, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048426", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F3328", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780422878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780422878" }, { "id": "rs1780422878", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780422878#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 332, "end_pos": 332, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096859", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y332", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3330, "end_pos": 3330, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048419", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L3330", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769294568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769294568" }, { "id": "rs769294568", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769294568" }, { "id": "rs769294568", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769294568#frequency_tab" }, { "id": "rs769294568", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769294568" } ], "glycoeffect": [], "start_pos": 3330, "end_pos": 3330, "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048420", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1284215813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284215813" }, { "id": "rs1284215813", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1284215813#frequency_tab" }, { "id": "rs1284215813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284215813" } ], "glycoeffect": [], "start_pos": 3331, "end_pos": 3331, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048416", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1284215813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284215813" }, { "id": "rs1284215813", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1284215813#frequency_tab" }, { "id": "rs1284215813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284215813" } ], "glycoeffect": [], "start_pos": 3331, "end_pos": 3331, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048416", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1299020479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299020479" }, { "id": "rs1299020479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299020479" }, { "id": "rs1299020479", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1299020479" } ], "glycoeffect": [], "start_pos": 3334, "end_pos": 3334, "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048407", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3334", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1777037439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777037439" }, { "id": "rs1777037439", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777037439" } ], "glycoeffect": [], "start_pos": 3335, "end_pos": 3335, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048404", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3335", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779059111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779059111" } ], "glycoeffect": [], "start_pos": 3335, "end_pos": 3335, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048405", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3335", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1032893435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1032893435" }, { "id": "rs1032893435", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1032893435#frequency_tab" } ], "glycoeffect": [], "start_pos": 3336, "end_pos": 3336, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048402", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3336", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1032893435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1032893435" }, { "id": "rs1032893435", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1032893435#frequency_tab" } ], "glycoeffect": [], "start_pos": 3336, "end_pos": 3336, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048402", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3336", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs533572292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533572292" }, { "id": "rs533572292", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs533572292" }, { "id": "rs533572292", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533572292" }, { "id": "rs533572292", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs533572292" } ], "glycoeffect": [], "start_pos": 3338, "end_pos": 3338, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048396", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R3338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs924911382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs924911382" }, { "id": "rs924911382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs924911382#frequency_tab" }, { "id": "rs924911382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs924911382" } ], "glycoeffect": [], "start_pos": 3338, "end_pos": 3338, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048395", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1429567919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429567919" }, { "id": "rs1429567919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429567919" } ], "glycoeffect": [], "start_pos": 3339, "end_pos": 3339, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048393", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3339", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3339, "end_pos": 3339, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048392", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H3339", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1429567919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429567919" }, { "id": "rs1429567919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429567919" } ], "glycoeffect": [], "start_pos": 3339, "end_pos": 3339, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048393", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3339", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482889641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482889641" }, { "id": "rs1482889641", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1482889641#frequency_tab" }, { "id": "rs1482889641", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1482889641" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 333, "end_pos": 333, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096855", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483762502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483762502" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 333, "end_pos": 333, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096856", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61737606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61737606" }, { "id": "rs61737606", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61737606" }, { "id": "rs61737606", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61737606" }, { "id": "rs61737606", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61737606#frequency_tab" }, { "id": "rs61737606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61737606" } ], "glycoeffect": [], "start_pos": 3340, "end_pos": 3340, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048390", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00274725", "site_lbl": "G3340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758157446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758157446" }, { "id": "rs758157446", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758157446" }, { "id": "rs758157446", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758157446#frequency_tab" }, { "id": "rs758157446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758157446" } ], "glycoeffect": [], "start_pos": 3340, "end_pos": 3340, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048389", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777034522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777034522" }, { "id": "rs1777034522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777034522" } ], "glycoeffect": [], "start_pos": 3342, "end_pos": 3342, "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048383", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483414164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483414164" } ], "glycoeffect": [], "start_pos": 3342, "end_pos": 3342, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048384", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1169150552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1169150552" }, { "id": "rs1169150552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1169150552" } ], "glycoeffect": [], "start_pos": 3344, "end_pos": 3344, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048378", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1401796717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401796717" }, { "id": "rs1401796717", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1401796717#frequency_tab" }, { "id": "rs1401796717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401796717" } ], "glycoeffect": [], "start_pos": 3345, "end_pos": 3345, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048375", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1401796717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401796717" }, { "id": "rs1401796717", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1401796717#frequency_tab" }, { "id": "rs1401796717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401796717" } ], "glycoeffect": [], "start_pos": 3345, "end_pos": 3345, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048375", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777033406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777033406" }, { "id": "rs1777033406", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777033406" } ], "glycoeffect": [], "start_pos": 3346, "end_pos": 3346, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048372", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3346", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1430308758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430308758" }, { "id": "rs1430308758", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1430308758#frequency_tab" }, { "id": "rs1430308758", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1430308758" } ], "glycoeffect": [], "start_pos": 3346, "end_pos": 3346, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048371", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3346", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3347, "end_pos": 3347, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32048368", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3347", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs529527925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529527925" }, { "id": "rs529527925", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529527925" }, { "id": "rs529527925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529527925" }, { "id": "rs529527925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs529527925#frequency_tab" }, { "id": "rs529527925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529527925" }, { "id": "rs529527925", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529527925" } ], "glycoeffect": [], "start_pos": 3349, "end_pos": 3349, "sequence_org": "A", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048363", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3349", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs529527925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529527925" }, { "id": "rs529527925", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529527925" }, { "id": "rs529527925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529527925" }, { "id": "rs529527925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs529527925#frequency_tab" }, { "id": "rs529527925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529527925" } ], "glycoeffect": [], "start_pos": 3349, "end_pos": 3349, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048363", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3349", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs764230770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764230770" }, { "id": "rs764230770", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764230770" }, { "id": "rs764230770", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764230770#frequency_tab" }, { "id": "rs764230770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764230770" } ], "glycoeffect": [], "start_pos": 3350, "end_pos": 3350, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048009", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3350", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758714743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758714743" } ], "glycoeffect": [], "start_pos": 3351, "end_pos": 3351, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048005", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3351", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1354484669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1354484669" }, { "id": "rs1354484669", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1354484669" } ], "glycoeffect": [], "start_pos": 3351, "end_pos": 3351, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048007", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3351", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1288711313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1288711313" }, { "id": "rs1288711313", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1288711313" } ], "glycoeffect": [], "start_pos": 3351, "end_pos": 3351, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048006", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3351", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752992071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752992071" }, { "id": "rs752992071", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752992071" }, { "id": "rs752992071", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752992071#frequency_tab" }, { "id": "rs752992071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752992071" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3352, "end_pos": 3352, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32048003", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1458413694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458413694" }, { "id": "rs1458413694", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1458413694" } ], "glycoeffect": [], "start_pos": 3354, "end_pos": 3354, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047997", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140530599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140530599" }, { "id": "rs140530599", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140530599" }, { "id": "rs140530599", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140530599" }, { "id": "rs140530599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140530599#frequency_tab" }, { "id": "rs140530599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140530599" } ], "glycoeffect": [], "start_pos": 3354, "end_pos": 3354, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047998", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00569074", "site_lbl": "P3354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151890106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151890106" }, { "id": "rs2151890106", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151890106" } ], "glycoeffect": [], "start_pos": 3356, "end_pos": 3356, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047992", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1162946901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1162946901" }, { "id": "rs1162946901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1162946901" }, { "id": "rs1162946901", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1162946901" } ], "glycoeffect": [], "start_pos": 3356, "end_pos": 3356, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32047991", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3356", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1265815115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1265815115" }, { "id": "rs1265815115", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1265815115#frequency_tab" }, { "id": "rs1265815115", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1265815115" } ], "glycoeffect": [], "start_pos": 3357, "end_pos": 3357, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047989", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369739697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369739697" }, { "id": "rs369739697", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369739697" }, { "id": "rs369739697", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369739697" }, { "id": "rs369739697", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369739697#frequency_tab" }, { "id": "rs369739697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369739697" } ], "glycoeffect": [], "start_pos": 3357, "end_pos": 3357, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047988", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R3357", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs933217824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs933217824" }, { "id": "rs933217824", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs933217824" } ], "glycoeffect": [], "start_pos": 3358, "end_pos": 3358, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047985", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3358", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769518600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769518600" }, { "id": "rs769518600", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs769518600" } ], "glycoeffect": [], "start_pos": 3359, "end_pos": 3359, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047982", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3359, "end_pos": 3359, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32047983", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3359", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780421801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780421801" }, { "id": "rs1780421801", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780421801#frequency_tab" }, { "id": "rs1780421801", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780421801" } ], "glycoeffect": [], "start_pos": 335, "end_pos": 335, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096850", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E335", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1777005566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777005566" }, { "id": "rs1777005566", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777005566#frequency_tab" }, { "id": "rs1777005566", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777005566" } ], "glycoeffect": [], "start_pos": 3360, "end_pos": 3360, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047980", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3360", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777005350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777005350" }, { "id": "rs1777005350", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777005350#frequency_tab" }, { "id": "rs1777005350", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1777005350" } ], "glycoeffect": [], "start_pos": 3360, "end_pos": 3360, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047979", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3360", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1777005083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777005083" }, { "id": "rs1777005083", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1777005083" } ], "glycoeffect": [], "start_pos": 3363, "end_pos": 3363, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047970", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3365, "end_pos": 3365, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32047965", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D3365", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs772853952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772853952" }, { "id": "rs772853952", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772853952" }, { "id": "rs772853952", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772853952#frequency_tab" }, { "id": "rs772853952", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772853952" } ], "glycoeffect": [], "start_pos": 3366, "end_pos": 3366, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047961", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184366522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184366522" }, { "id": "rs1184366522", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184366522#frequency_tab" }, { "id": "rs1184366522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184366522" } ], "glycoeffect": [], "start_pos": 3366, "end_pos": 3366, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047962", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184366522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184366522" }, { "id": "rs1184366522", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184366522#frequency_tab" }, { "id": "rs1184366522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184366522" } ], "glycoeffect": [], "start_pos": 3366, "end_pos": 3366, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047962", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772853952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772853952" }, { "id": "rs772853952", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772853952" }, { "id": "rs772853952", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772853952#frequency_tab" }, { "id": "rs772853952", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772853952" }, { "id": "rs772853952", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772853952" } ], "glycoeffect": [], "start_pos": 3366, "end_pos": 3366, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047961", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3366", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1777003733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1777003733" }, { "id": "rs1777003733", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1777003733#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3367, "end_pos": 3367, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047958", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1210958327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1210958327" }, { "id": "rs1210958327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1210958327" } ], "glycoeffect": [], "start_pos": 3367, "end_pos": 3367, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047959", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754128472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754128472" }, { "id": "rs754128472", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754128472" }, { "id": "rs754128472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754128472#frequency_tab" }, { "id": "rs754128472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754128472" } ], "glycoeffect": [], "start_pos": 336, "end_pos": 336, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096845", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D336", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151890028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151890028" }, { "id": "rs2151890028", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151890028" }, { "id": "rs2151890028", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151890028" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3370, "end_pos": 3370, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047949", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3370", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs201155046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201155046" }, { "id": "rs201155046", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201155046" }, { "id": "rs201155046", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201155046" }, { "id": "rs201155046", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201155046#frequency_tab" }, { "id": "rs201155046", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201155046" } ], "glycoeffect": [], "start_pos": 3371, "end_pos": 3371, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047947", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "V3371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1177712877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177712877" }, { "id": "rs1177712877", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1177712877#frequency_tab" }, { "id": "rs1177712877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177712877" } ], "glycoeffect": [], "start_pos": 3372, "end_pos": 3372, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047944", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3372", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768473882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768473882" }, { "id": "rs768473882", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768473882" }, { "id": "rs768473882", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768473882" } ], "glycoeffect": [], "start_pos": 3373, "end_pos": 3373, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047941", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3373", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780789365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780789365" }, { "id": "rs780789365", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780789365" }, { "id": "rs780789365", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780789365#frequency_tab" }, { "id": "rs780789365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780789365" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3374, "end_pos": 3374, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047937", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3374", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747729203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747729203" }, { "id": "rs747729203", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs747729203" } ], "glycoeffect": [], "start_pos": 3374, "end_pos": 3374, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047938", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3374", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757265230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757265230" }, { "id": "rs757265230", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757265230" }, { "id": "rs757265230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757265230" } ], "glycoeffect": [], "start_pos": 3375, "end_pos": 3375, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047935", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3375", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs528798030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528798030" }, { "id": "rs528798030", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528798030" }, { "id": "rs528798030", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528798030" }, { "id": "rs528798030", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs528798030#frequency_tab" }, { "id": "rs528798030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs528798030" }, { "id": "rs528798030", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528798030" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3376, "end_pos": 3376, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047931", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3376", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs758528013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758528013" }, { "id": "rs758528013", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758528013" }, { "id": "rs758528013", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758528013#frequency_tab" }, { "id": "rs758528013", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758528013" } ], "glycoeffect": [], "start_pos": 3378, "end_pos": 3378, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047926", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3378", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs936441916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs936441916" }, { "id": "rs936441916", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs936441916#frequency_tab" }, { "id": "rs936441916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs936441916" } ], "glycoeffect": [], "start_pos": 3379, "end_pos": 3379, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047923", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3379", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1458044454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458044454" }, { "id": "rs1458044454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1458044454" } ], "glycoeffect": [], "start_pos": 337, "end_pos": 337, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096843", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C337", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779104940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779104940" }, { "id": "rs779104940", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779104940" }, { "id": "rs779104940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779104940" }, { "id": "rs779104940", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779104940" } ], "glycoeffect": [], "start_pos": 3381, "end_pos": 3381, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047917", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3381", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs755414858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755414858" }, { "id": "rs755414858", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755414858" }, { "id": "rs755414858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755414858" }, { "id": "rs146798373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146798373" }, { "id": "rs146798373", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146798373" }, { "id": "rs146798373", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146798373" }, { "id": "rs146798373", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146798373#frequency_tab" }, { "id": "rs146798373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146798373" } ], "glycoeffect": [], "start_pos": 3382, "end_pos": 3382, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047914", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3382", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749884003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749884003" }, { "id": "rs749884003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749884003" }, { "id": "rs749884003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749884003" } ], "glycoeffect": [], "start_pos": 3383, "end_pos": 3383, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047910", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3383", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754446472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754446472" }, { "id": "rs754446472", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754446472" }, { "id": "rs754446472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754446472#frequency_tab" }, { "id": "rs754446472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754446472" } ], "glycoeffect": [], "start_pos": 3383, "end_pos": 3383, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047911", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3383", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754446472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754446472" }, { "id": "rs754446472", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754446472" }, { "id": "rs754446472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754446472#frequency_tab" }, { "id": "rs754446472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754446472" } ], "glycoeffect": [], "start_pos": 3383, "end_pos": 3383, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047911", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3383", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200580526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200580526" }, { "id": "rs200580526", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200580526" }, { "id": "rs200580526", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200580526" }, { "id": "rs200580526", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200580526#frequency_tab" }, { "id": "rs200580526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200580526" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3384, "end_pos": 3384, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047907", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "S3384", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200580526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200580526" }, { "id": "rs200580526", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200580526" }, { "id": "rs200580526", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200580526" }, { "id": "rs200580526", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200580526#frequency_tab" }, { "id": "rs200580526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200580526" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3384, "end_pos": 3384, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047907", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "S3384", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs530880273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530880273" }, { "id": "rs530880273", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530880273" }, { "id": "rs530880273", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530880273" }, { "id": "rs530880273", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530880273#frequency_tab" }, { "id": "rs530880273", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530880273" }, { "id": "rs530880273", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530880273" } ], "glycoeffect": [], "start_pos": 3386, "end_pos": 3386, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047902", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3386", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1776996797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776996797" }, { "id": "rs1776996797", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776996797#frequency_tab" } ], "glycoeffect": [], "start_pos": 3388, "end_pos": 3388, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047894", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3388", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3388, "end_pos": 3388, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32047895", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q3388", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483762358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483762358" } ], "glycoeffect": [], "start_pos": 338, "end_pos": 338, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096840", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483762358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483762358" } ], "glycoeffect": [], "start_pos": 338, "end_pos": 338, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096840", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1206523510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206523510" }, { "id": "rs1206523510", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1206523510" } ], "glycoeffect": [], "start_pos": 3391, "end_pos": 3391, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047886", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3391", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280938614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280938614" }, { "id": "rs1280938614", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1280938614#frequency_tab" }, { "id": "rs1280938614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280938614" }, { "id": "rs1280938614", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1280938614" } ], "glycoeffect": [], "start_pos": 3391, "end_pos": 3391, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047887", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3391", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1353947620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1353947620" }, { "id": "rs1353947620", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1353947620#frequency_tab" } ], "glycoeffect": [], "start_pos": 3393, "end_pos": 3393, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047880", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3393", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768385960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768385960" }, { "id": "rs768385960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768385960" }, { "id": "rs768385960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768385960" } ], "glycoeffect": [], "start_pos": 3394, "end_pos": 3394, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047878", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3394", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775334790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775334790" }, { "id": "rs775334790", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775334790" }, { "id": "rs775334790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775334790" } ], "glycoeffect": [], "start_pos": 3395, "end_pos": 3395, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047874", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762744408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762744408" }, { "id": "rs762744408", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762744408" }, { "id": "rs762744408", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762744408#frequency_tab" }, { "id": "rs762744408", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762744408" }, { "id": "rs762744408", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs762744408" } ], "glycoeffect": [], "start_pos": 3395, "end_pos": 3395, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047875", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3395", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1776994239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776994239" }, { "id": "rs1776994239", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776994239#frequency_tab" }, { "id": "rs1776994239", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776994239" } ], "glycoeffect": [], "start_pos": 3397, "end_pos": 3397, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047867", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776993665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776993665" }, { "id": "rs1776993665", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776993665#frequency_tab" }, { "id": "rs1776993665", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776993665" } ], "glycoeffect": [], "start_pos": 3398, "end_pos": 3398, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047865", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3398", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769706169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769706169" }, { "id": "rs769706169", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769706169" }, { "id": "rs769706169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769706169" } ], "glycoeffect": [], "start_pos": 3398, "end_pos": 3398, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047866", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3398", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs769706169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769706169" }, { "id": "rs769706169", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769706169" }, { "id": "rs769706169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769706169" }, { "id": "rs769706169", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769706169" } ], "glycoeffect": [], "start_pos": 3398, "end_pos": 3398, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32047866", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3398", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2483408805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483408805" } ], "glycoeffect": [], "start_pos": 3399, "end_pos": 3399, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047862", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3399", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369797837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369797837" }, { "id": "rs369797837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369797837" }, { "id": "rs369797837", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369797837#frequency_tab" }, { "id": "rs369797837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369797837" } ], "glycoeffect": [], "start_pos": 3399, "end_pos": 3399, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047863", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3399", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780421269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780421269" }, { "id": "rs1780421269", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780421269" }, { "id": "rs1780421269", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780421269" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 339, "end_pos": 339, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096837", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T339", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs777685355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777685355" }, { "id": "rs777685355", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777685355" }, { "id": "rs777685355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777685355" }, { "id": "rs777685355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777685355#frequency_tab" }, { "id": "rs777685355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777685355" } ], "glycoeffect": [], "start_pos": 3400, "end_pos": 3400, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047859", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3400", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777685355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777685355" }, { "id": "rs777685355", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777685355" }, { "id": "rs777685355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777685355" }, { "id": "rs777685355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777685355#frequency_tab" }, { "id": "rs777685355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777685355" } ], "glycoeffect": [], "start_pos": 3400, "end_pos": 3400, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047859", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3400", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1776993185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776993185" }, { "id": "rs1776993185", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776993185#frequency_tab" }, { "id": "rs1776993185", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1776993185" } ], "glycoeffect": [], "start_pos": 3400, "end_pos": 3400, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32047860", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3400", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1776992133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776992133" }, { "id": "rs1776992133", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776992133" } ], "glycoeffect": [], "start_pos": 3403, "end_pos": 3403, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047850", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3403", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776991652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776991652" }, { "id": "rs1776991652", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776991652#frequency_tab" } ], "glycoeffect": [], "start_pos": 3404, "end_pos": 3404, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047846", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779289949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779289949" }, { "id": "rs779289949", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779289949" }, { "id": "rs779289949", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779289949" } ], "glycoeffect": [], "start_pos": 3404, "end_pos": 3404, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047847", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1173480804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173480804" }, { "id": "rs1173480804", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173480804" } ], "glycoeffect": [], "start_pos": 3405, "end_pos": 3405, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047845", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3405", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371271579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371271579" }, { "id": "rs371271579", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371271579" }, { "id": "rs371271579", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371271579#frequency_tab" }, { "id": "rs371271579", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371271579" } ], "glycoeffect": [], "start_pos": 3406, "end_pos": 3406, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047841", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3406", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375911095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375911095" }, { "id": "rs375911095", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375911095" }, { "id": "rs375911095", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375911095#frequency_tab" }, { "id": "rs375911095", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375911095" }, { "id": "rs375911095", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375911095" } ], "glycoeffect": [], "start_pos": 3406, "end_pos": 3406, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047842", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3406", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1224768468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224768468" }, { "id": "rs1224768468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224768468" } ], "glycoeffect": [], "start_pos": 340, "end_pos": 340, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096834", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766643558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766643558" }, { "id": "rs766643558", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766643558" }, { "id": "rs766643558", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766643558" } ], "glycoeffect": [], "start_pos": 340, "end_pos": 340, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096835", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1776989775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776989775" }, { "id": "rs1776989775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776989775" }, { "id": "rs1776989775", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1776989775" } ], "glycoeffect": [], "start_pos": 3411, "end_pos": 3411, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32047825", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q3411", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2746409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2746409" }, { "id": "rs2746409", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2746409" } ], "glycoeffect": [], "start_pos": 3412, "end_pos": 3412, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047823", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3412", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776988970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776988970" }, { "id": "rs1776988970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776988970" } ], "glycoeffect": [], "start_pos": 3413, "end_pos": 3413, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047820", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1450710849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450710849" }, { "id": "rs1450710849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450710849" } ], "glycoeffect": [], "start_pos": 3414, "end_pos": 3414, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047818", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3414", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1194756098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194756098" }, { "id": "rs1194756098", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194756098" } ], "glycoeffect": [], "start_pos": 3415, "end_pos": 3415, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047814", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750976463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750976463" }, { "id": "rs750976463", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750976463" }, { "id": "rs750976463", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750976463" } ], "glycoeffect": [], "start_pos": 3415, "end_pos": 3415, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047815", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs917554856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs917554856" }, { "id": "rs917554856", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs917554856#frequency_tab" }, { "id": "rs917554856", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs917554856" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3416, "end_pos": 3416, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047812", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3416", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1025908421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1025908421" }, { "id": "rs1025908421", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1025908421" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3416, "end_pos": 3416, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047810", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3416", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766890944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766890944" }, { "id": "rs766890944", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766890944" }, { "id": "rs766890944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766890944" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3419, "end_pos": 3419, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047803", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1312851170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312851170" }, { "id": "rs1312851170", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312851170" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 341, "end_pos": 341, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096831", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S341", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199563047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199563047" }, { "id": "rs199563047", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199563047" }, { "id": "rs199563047", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199563047#frequency_tab" }, { "id": "rs199563047", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199563047" } ], "glycoeffect": [], "start_pos": 3420, "end_pos": 3420, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047800", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3420", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1278006788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1278006788" }, { "id": "rs1278006788", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1278006788#frequency_tab" }, { "id": "rs1278006788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1278006788" } ], "glycoeffect": [], "start_pos": 3420, "end_pos": 3420, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047798", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3420", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1233461604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233461604" }, { "id": "rs1233461604", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233461604" } ], "glycoeffect": [], "start_pos": 3423, "end_pos": 3423, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047791", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3423", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751108946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751108946" }, { "id": "rs751108946", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751108946" }, { "id": "rs751108946", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751108946" } ], "glycoeffect": [], "start_pos": 3423, "end_pos": 3423, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047790", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3423", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776986136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776986136" }, { "id": "rs1776986136", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776986136#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3424, "end_pos": 3424, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047787", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3426, "end_pos": 3426, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32047782", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L3426", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1271973592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1271973592" }, { "id": "rs1271973592", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1271973592" } ], "glycoeffect": [], "start_pos": 3428, "end_pos": 3428, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047775", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3428", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763736020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763736020" }, { "id": "rs763736020", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763736020" }, { "id": "rs763736020", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763736020" } ], "glycoeffect": [], "start_pos": 3430, "end_pos": 3430, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047768", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3430", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1164247487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164247487" }, { "id": "rs1164247487", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1164247487" } ], "glycoeffect": [], "start_pos": 3430, "end_pos": 3430, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047770", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3430", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762652171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762652171" }, { "id": "rs762652171", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762652171" }, { "id": "rs762652171", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762652171" } ], "glycoeffect": [], "start_pos": 3431, "end_pos": 3431, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047767", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3431", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1367983105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1367983105" }, { "id": "rs1367983105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1367983105#frequency_tab" }, { "id": "rs1367983105", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1367983105" } ], "glycoeffect": [], "start_pos": 3431, "end_pos": 3431, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32047766", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3431", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1776984746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776984746" }, { "id": "rs1776984746", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776984746" } ], "glycoeffect": [], "start_pos": 3433, "end_pos": 3433, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047760", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3433", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151889695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151889695" }, { "id": "rs2151889695", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151889695" } ], "glycoeffect": [], "start_pos": 3434, "end_pos": 3434, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047758", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3434", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1307962610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307962610" }, { "id": "rs1307962610", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1307962610#frequency_tab" }, { "id": "rs1307962610", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307962610" }, { "id": "rs1307962610", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1307962610" } ], "glycoeffect": [], "start_pos": 3435, "end_pos": 3435, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32047755", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I3435", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "rs1562785021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562785021" }, { "id": "rs1562785021", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562785021" } ], "glycoeffect": [], "start_pos": 3435, "end_pos": 3435, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047754", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3435", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1307962610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307962610" }, { "id": "rs1307962610", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1307962610#frequency_tab" }, { "id": "rs1307962610", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307962610" } ], "glycoeffect": [], "start_pos": 3435, "end_pos": 3435, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047755", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3435", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367668564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367668564" }, { "id": "rs367668564", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367668564#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3436, "end_pos": 3436, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3436", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775246566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775246566" }, { "id": "rs775246566", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775246566" }, { "id": "rs775246566", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775246566#frequency_tab" }, { "id": "rs775246566", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775246566" } ], "glycoeffect": [], "start_pos": 3437, "end_pos": 3437, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047749", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775246566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775246566" }, { "id": "rs775246566", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775246566" }, { "id": "rs775246566", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775246566#frequency_tab" }, { "id": "rs775246566", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775246566" } ], "glycoeffect": [], "start_pos": 3437, "end_pos": 3437, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047749", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1416933620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416933620" }, { "id": "rs1416933620", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416933620" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3439, "end_pos": 3439, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047743", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3439", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382770921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382770921" }, { "id": "rs1382770921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382770921" } ], "glycoeffect": [], "start_pos": 343, "end_pos": 343, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096825", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P343", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776983163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776983163" }, { "id": "rs1776983163", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776983163#frequency_tab" }, { "id": "rs1776983163", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1776983163" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3440, "end_pos": 3440, "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047739", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3440", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1374017898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374017898" }, { "id": "rs1374017898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374017898" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3441, "end_pos": 3441, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047737", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3441", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1312713297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312713297" }, { "id": "rs1312713297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312713297" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3441, "end_pos": 3441, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047736", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3441", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776982431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776982431" }, { "id": "rs1776982431", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776982431#frequency_tab" } ], "glycoeffect": [], "start_pos": 3442, "end_pos": 3442, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32047734", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3442", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs181032487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs181032487" } ], "glycoeffect": [], "start_pos": 3443, "end_pos": 3443, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046454", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3443", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs181032487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs181032487" }, { "id": "rs181032487", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs181032487" }, { "id": "rs181032487", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs181032487" }, { "id": "rs181032487", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs181032487" } ], "glycoeffect": [], "start_pos": 3443, "end_pos": 3443, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046454", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P3443", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs751056536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751056536" }, { "id": "rs751056536", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751056536" }, { "id": "rs751056536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751056536" } ], "glycoeffect": [], "start_pos": 3444, "end_pos": 3444, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046450", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3444", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758019278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758019278" }, { "id": "rs758019278", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758019278" }, { "id": "rs758019278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758019278" } ], "glycoeffect": [], "start_pos": 3445, "end_pos": 3445, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046448", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3445", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1215679391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215679391" }, { "id": "rs1215679391", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215679391" }, { "id": "rs1215679391", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1215679391" } ], "glycoeffect": [], "start_pos": 3446, "end_pos": 3446, "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046443", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3446", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2151887878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151887878" }, { "id": "rs2151887878", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151887878" } ], "glycoeffect": [], "start_pos": 3446, "end_pos": 3446, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046445", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3446", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1332899837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332899837" }, { "id": "rs1332899837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332899837" } ], "glycoeffect": [], "start_pos": 3447, "end_pos": 3447, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046442", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1313545553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1313545553" }, { "id": "rs1313545553", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1313545553" } ], "glycoeffect": [], "start_pos": 344, "end_pos": 344, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096822", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866443724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866443724" }, { "id": "rs866443724", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866443724" } ], "glycoeffect": [], "start_pos": 344, "end_pos": 344, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096823", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1039504571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039504571" }, { "id": "rs1039504571", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1039504571" }, { "id": "rs1039504571", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1039504571" } ], "glycoeffect": [], "start_pos": 3450, "end_pos": 3450, "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046432", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3450", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1039504571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039504571" }, { "id": "rs1039504571", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1039504571" } ], "glycoeffect": [], "start_pos": 3450, "end_pos": 3450, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046432", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3450", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1375977368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375977368" }, { "id": "rs1375977368", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375977368" } ], "glycoeffect": [], "start_pos": 3451, "end_pos": 3451, "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046430", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3451", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759385589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759385589" }, { "id": "rs759385589", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759385589" }, { "id": "rs759385589", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759385589" } ], "glycoeffect": [], "start_pos": 3453, "end_pos": 3453, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046423", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3453", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776889119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776889119" }, { "id": "rs1776889119", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776889119" } ], "glycoeffect": [], "start_pos": 3453, "end_pos": 3453, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046424", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3453", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3454, "end_pos": 3454, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046421", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3454", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs766332362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766332362" }, { "id": "rs766332362", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766332362" }, { "id": "rs766332362", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766332362" } ], "glycoeffect": [], "start_pos": 3456, "end_pos": 3456, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046414", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3456", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199623625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199623625" }, { "id": "rs199623625", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199623625" }, { "id": "rs199623625", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199623625#frequency_tab" }, { "id": "rs199623625", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199623625" } ], "glycoeffect": [], "start_pos": 3457, "end_pos": 3457, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046412", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs199623625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199623625" }, { "id": "rs199623625", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199623625" }, { "id": "rs199623625", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199623625#frequency_tab" }, { "id": "rs199623625", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199623625" }, { "id": "rs199623625", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199623625" } ], "glycoeffect": [], "start_pos": 3457, "end_pos": 3457, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046412", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3457", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1016630556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1016630556" }, { "id": "rs1016630556", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1016630556" } ], "glycoeffect": [], "start_pos": 3458, "end_pos": 3458, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046408", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775869966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775869966" } ], "glycoeffect": [], "start_pos": 3458, "end_pos": 3458, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046409", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775869966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775869966" }, { "id": "rs775869966", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775869966" }, { "id": "rs775869966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775869966" } ], "glycoeffect": [], "start_pos": 3458, "end_pos": 3458, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046409", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483762181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483762181" } ], "glycoeffect": [], "start_pos": 345, "end_pos": 345, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096818", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780419310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780419310" }, { "id": "rs1780419310", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780419310" } ], "glycoeffect": [], "start_pos": 345, "end_pos": 345, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096820", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368428233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368428233" }, { "id": "rs368428233", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368428233" }, { "id": "rs368428233", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368428233#frequency_tab" }, { "id": "rs368428233", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368428233" } ], "glycoeffect": [], "start_pos": 3460, "end_pos": 3460, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046401", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3460", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483395738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483395738" } ], "glycoeffect": [], "start_pos": 3460, "end_pos": 3460, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046403", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3460", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776886478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776886478" }, { "id": "rs1776886478", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776886478" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3461, "end_pos": 3461, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046399", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781468221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781468221" }, { "id": "rs781468221", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781468221" }, { "id": "rs781468221", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781468221" }, { "id": "rs781468221", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781468221" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3463, "end_pos": 3463, "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046394", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3463", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1195525698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195525698" }, { "id": "rs1195525698", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195525698" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3464, "end_pos": 3464, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046391", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3464", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3464, "end_pos": 3464, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046390", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S3464", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1304065378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304065378" }, { "id": "rs1304065378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304065378" } ], "glycoeffect": [], "start_pos": 3465, "end_pos": 3465, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046387", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3465", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1005686810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1005686810" }, { "id": "rs1005686810", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1005686810#frequency_tab" }, { "id": "rs1005686810", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1005686810" }, { "id": "rs1005686810", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1005686810" } ], "glycoeffect": [], "start_pos": 3466, "end_pos": 3466, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046385", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3466", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs757765276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757765276" }, { "id": "rs757765276", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757765276" }, { "id": "rs757765276", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757765276#frequency_tab" }, { "id": "rs757765276", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757765276" } ], "glycoeffect": [], "start_pos": 3466, "end_pos": 3466, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046384", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3466", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757765276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757765276" }, { "id": "rs757765276", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757765276" }, { "id": "rs757765276", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757765276#frequency_tab" }, { "id": "rs757765276", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757765276" } ], "glycoeffect": [], "start_pos": 3466, "end_pos": 3466, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046384", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3466", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1005686810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1005686810" }, { "id": "rs1005686810", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1005686810#frequency_tab" }, { "id": "rs1005686810", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1005686810" } ], "glycoeffect": [], "start_pos": 3466, "end_pos": 3466, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046385", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3466", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776884825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776884825" }, { "id": "rs1776884825", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776884825#frequency_tab" } ], "glycoeffect": [], "start_pos": 3467, "end_pos": 3467, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046382", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3467", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs747559127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747559127" }, { "id": "rs747559127", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747559127" }, { "id": "rs747559127", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747559127" }, { "id": "rs747559127", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747559127" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3468, "end_pos": 3468, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046378", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S3468", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs561570384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561570384" }, { "id": "rs561570384", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561570384" }, { "id": "rs561570384", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs561570384#frequency_tab" }, { "id": "rs561570384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561570384" } ], "glycoeffect": [], "start_pos": 3469, "end_pos": 3469, "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046375", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs889563138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs889563138" }, { "id": "rs889563138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs889563138" } ], "glycoeffect": [], "start_pos": 3469, "end_pos": 3469, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046376", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757929354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757929354" }, { "id": "rs757929354", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757929354" }, { "id": "rs757929354", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757929354#frequency_tab" }, { "id": "rs757929354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757929354" }, { "id": "rs757929354", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs757929354" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3470, "end_pos": 3470, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046372", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3470", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs1776882437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776882437" }, { "id": "rs1776882437", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776882437" } ], "glycoeffect": [], "start_pos": 3471, "end_pos": 3471, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046369", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3471, "end_pos": 3471, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046369", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3471", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1306291340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306291340" }, { "id": "rs1306291340", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1306291340#frequency_tab" }, { "id": "rs1306291340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1306291340" } ], "glycoeffect": [], "start_pos": 3471, "end_pos": 3471, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046370", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1049846859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1049846859" }, { "id": "rs1049846859", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1049846859" } ], "glycoeffect": [], "start_pos": 3472, "end_pos": 3472, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046366", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3472", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752286176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752286176" }, { "id": "rs752286176", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752286176" }, { "id": "rs752286176", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752286176" } ], "glycoeffect": [], "start_pos": 3473, "end_pos": 3473, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046363", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3473", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562782112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562782112" }, { "id": "rs1562782112", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562782112" } ], "glycoeffect": [], "start_pos": 3474, "end_pos": 3474, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046360", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3474", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1176729294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176729294" }, { "id": "rs1176729294", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1176729294#frequency_tab" } ], "glycoeffect": [], "start_pos": 3474, "end_pos": 3474, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046361", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3474", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754650827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754650827" }, { "id": "rs754650827", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754650827" }, { "id": "rs754650827", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754650827#frequency_tab" }, { "id": "rs754650827", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754650827" } ], "glycoeffect": [], "start_pos": 3476, "end_pos": 3476, "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046355", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3476", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753650767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753650767" }, { "id": "rs753650767", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753650767" }, { "id": "rs753650767", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753650767" } ], "glycoeffect": [], "start_pos": 3477, "end_pos": 3477, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046352", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3477", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766137106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766137106" }, { "id": "rs766137106", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766137106" }, { "id": "rs766137106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766137106" }, { "id": "rs766137106", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766137106" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3478, "end_pos": 3478, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046348", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3478", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1776879182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776879182" }, { "id": "rs1776879182", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776879182" } ], "glycoeffect": [], "start_pos": 3479, "end_pos": 3479, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046345", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3479", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3480, "end_pos": 3480, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046342", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V3480", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs548190378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs548190378" }, { "id": "rs548190378", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs548190378" }, { "id": "rs548190378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs548190378" }, { "id": "rs548190378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs548190378#frequency_tab" }, { "id": "rs548190378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs548190378" } ], "glycoeffect": [], "start_pos": 3480, "end_pos": 3480, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046343", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V3480", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757548390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757548390" }, { "id": "rs757548390", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs757548390" } ], "glycoeffect": [], "start_pos": 3481, "end_pos": 3481, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046340", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3481", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1452570198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1452570198" }, { "id": "rs1452570198", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1452570198" } ], "glycoeffect": [], "start_pos": 3482, "end_pos": 3482, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046337", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3482", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773312269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773312269" }, { "id": "rs773312269", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773312269" }, { "id": "rs773312269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773312269" } ], "glycoeffect": [], "start_pos": 3482, "end_pos": 3482, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046336", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3482", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1385637261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385637261" }, { "id": "rs1385637261", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1385637261#frequency_tab" }, { "id": "rs1385637261", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1385637261" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3483, "end_pos": 3483, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046332", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3483", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs763131927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763131927" }, { "id": "rs763131927", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763131927" }, { "id": "rs763131927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763131927" }, { "id": "rs763131927", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763131927" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3483, "end_pos": 3483, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046333", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Y3483", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1240606658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240606658" }, { "id": "rs1240606658", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1240606658#frequency_tab" }, { "id": "rs1240606658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1240606658" } ], "glycoeffect": [], "start_pos": 3484, "end_pos": 3484, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046331", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3484", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776876222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776876222" }, { "id": "rs1776876222", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776876222" } ], "glycoeffect": [], "start_pos": 3484, "end_pos": 3484, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046330", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3484", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs371565354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371565354" }, { "id": "rs371565354", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371565354" }, { "id": "rs371565354", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371565354#frequency_tab" }, { "id": "rs371565354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371565354" } ], "glycoeffect": [], "start_pos": 3485, "end_pos": 3485, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046327", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D3485", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs868180169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868180169" }, { "id": "rs868180169", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868180169" } ], "glycoeffect": [], "start_pos": 3485, "end_pos": 3485, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046328", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3485", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368518664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368518664" }, { "id": "rs368518664", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368518664" }, { "id": "rs368518664", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368518664#frequency_tab" }, { "id": "rs368518664", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368518664" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3486, "end_pos": 3486, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046324", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3486", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368518664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368518664" }, { "id": "rs368518664", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368518664" }, { "id": "rs368518664", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368518664#frequency_tab" }, { "id": "rs368518664", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368518664" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3486, "end_pos": 3486, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046324", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3486", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368518664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368518664" }, { "id": "rs368518664", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368518664" }, { "id": "rs368518664", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368518664#frequency_tab" }, { "id": "rs368518664", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368518664" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3486, "end_pos": 3486, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046324", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3486", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs530102674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530102674" }, { "id": "rs530102674", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530102674" }, { "id": "rs530102674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530102674" }, { "id": "rs530102674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530102674#frequency_tab" }, { "id": "rs530102674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530102674" } ], "glycoeffect": [], "start_pos": 3487, "end_pos": 3487, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046320", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D3487", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374378251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374378251" }, { "id": "rs374378251", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374378251" }, { "id": "rs374378251", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374378251#frequency_tab" }, { "id": "rs374378251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374378251" }, { "id": "rs374378251", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374378251" } ], "glycoeffect": [], "start_pos": 3487, "end_pos": 3487, "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046321", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3487", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3487, "end_pos": 3487, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046322", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D3487", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs747469298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747469298" }, { "id": "rs747469298", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747469298" }, { "id": "rs747469298", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747469298" } ], "glycoeffect": [], "start_pos": 3487, "end_pos": 3487, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046322", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3487", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778340683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778340683" }, { "id": "rs778340683", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778340683" }, { "id": "rs778340683", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778340683#frequency_tab" }, { "id": "rs778340683", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778340683" } ], "glycoeffect": [], "start_pos": 3488, "end_pos": 3488, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046319", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3488", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778340683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778340683" } ], "glycoeffect": [], "start_pos": 3488, "end_pos": 3488, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046319", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3488", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754633417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754633417" }, { "id": "rs754633417", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754633417" }, { "id": "rs754633417", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754633417" } ], "glycoeffect": [], "start_pos": 3489, "end_pos": 3489, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046316", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3489", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754633417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754633417" }, { "id": "rs754633417", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754633417" }, { "id": "rs754633417", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754633417" } ], "glycoeffect": [], "start_pos": 3489, "end_pos": 3489, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046316", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3489", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780418712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780418712" }, { "id": "rs1780418712", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780418712" } ], "glycoeffect": [], "start_pos": 348, "end_pos": 348, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096810", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763988771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763988771" }, { "id": "rs763988771", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763988771" }, { "id": "rs763988771", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763988771#frequency_tab" }, { "id": "rs763988771", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763988771" } ], "glycoeffect": [], "start_pos": 348, "end_pos": 348, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096811", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763988771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763988771" }, { "id": "rs763988771", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763988771" }, { "id": "rs763988771", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763988771#frequency_tab" }, { "id": "rs763988771", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763988771" } ], "glycoeffect": [], "start_pos": 348, "end_pos": 348, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096811", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482339466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482339466" }, { "id": "rs1482339466", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1482339466#frequency_tab" }, { "id": "rs1482339466", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1482339466" } ], "glycoeffect": [], "start_pos": 3490, "end_pos": 3490, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046312", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3490", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482339466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482339466" } ], "glycoeffect": [], "start_pos": 3490, "end_pos": 3490, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046312", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3490", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776873057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776873057" }, { "id": "rs1776873057", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776873057#frequency_tab" } ], "glycoeffect": [], "start_pos": 3491, "end_pos": 3491, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046309", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3491", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3491, "end_pos": 3491, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046308", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3491", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1286768903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286768903" }, { "id": "rs1286768903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286768903" } ], "glycoeffect": [], "start_pos": 3492, "end_pos": 3492, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046306", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3492", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs948789311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs948789311" }, { "id": "rs948789311", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs948789311" } ], "glycoeffect": [], "start_pos": 3493, "end_pos": 3493, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046303", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3493", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs978797272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978797272" }, { "id": "rs978797272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs978797272" } ], "glycoeffect": [], "start_pos": 3493, "end_pos": 3493, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046304", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3493", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483393801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483393801" } ], "glycoeffect": [], "start_pos": 3494, "end_pos": 3494, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046301", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3494", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs559445177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559445177" }, { "id": "rs559445177", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559445177" } ], "glycoeffect": [], "start_pos": 3494, "end_pos": 3494, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046300", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P3494", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582337456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582337456" } ], "glycoeffect": [], "start_pos": 3494, "end_pos": 3494, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046302_32046305", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3494", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1375825623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375825623" }, { "id": "rs1375825623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375825623" } ], "glycoeffect": [], "start_pos": 3495, "end_pos": 3495, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046297", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3495", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1375825623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375825623" }, { "id": "rs1375825623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375825623" } ], "glycoeffect": [], "start_pos": 3495, "end_pos": 3495, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046297", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3495", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1399084549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399084549" }, { "id": "rs1399084549", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1399084549#frequency_tab" }, { "id": "rs1399084549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1399084549" } ], "glycoeffect": [], "start_pos": 3495, "end_pos": 3495, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046298", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3495", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1399084549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399084549" }, { "id": "rs1399084549", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1399084549#frequency_tab" }, { "id": "rs1399084549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1399084549" } ], "glycoeffect": [], "start_pos": 3495, "end_pos": 3495, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046298", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3495", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1358540052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1358540052" }, { "id": "rs1358540052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1358540052" } ], "glycoeffect": [], "start_pos": 3497, "end_pos": 3497, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046291", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs547169479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547169479" }, { "id": "rs547169479", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547169479" }, { "id": "rs547169479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547169479" }, { "id": "rs547169479", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs547169479#frequency_tab" }, { "id": "rs547169479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547169479" } ], "glycoeffect": [], "start_pos": 3497, "end_pos": 3497, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046292", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs547169479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547169479" }, { "id": "rs547169479", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547169479" }, { "id": "rs547169479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547169479" }, { "id": "rs547169479", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs547169479#frequency_tab" }, { "id": "rs547169479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547169479" } ], "glycoeffect": [], "start_pos": 3497, "end_pos": 3497, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046292", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs547169479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547169479" }, { "id": "rs547169479", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547169479" }, { "id": "rs547169479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547169479" }, { "id": "rs547169479", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs547169479#frequency_tab" }, { "id": "rs547169479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547169479" }, { "id": "rs547169479", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547169479" } ], "glycoeffect": [], "start_pos": 3497, "end_pos": 3497, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046292", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3497", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1358540052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1358540052" }, { "id": "rs1358540052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1358540052" } ], "glycoeffect": [], "start_pos": 3497, "end_pos": 3497, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046291", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777789604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777789604" } ], "glycoeffect": [], "start_pos": 3498, "end_pos": 3498, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046288", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3498, "end_pos": 3498, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046289", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D3498", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs777789604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777789604" }, { "id": "rs777789604", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs777789604" } ], "glycoeffect": [], "start_pos": 3498, "end_pos": 3498, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046288", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1171170926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171170926" }, { "id": "rs1171170926", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171170926" } ], "glycoeffect": [], "start_pos": 3499, "end_pos": 3499, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046285", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3499", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1351763042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351763042" }, { "id": "rs1351763042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351763042" }, { "id": "rs1351763042", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1351763042" } ], "glycoeffect": [], "start_pos": 349, "end_pos": 349, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096807", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G349", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1460685114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460685114" }, { "id": "rs1460685114", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460685114" } ], "glycoeffect": [], "start_pos": 349, "end_pos": 349, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096808", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750321615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750321615" }, { "id": "rs750321615", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750321615" }, { "id": "rs750321615", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750321615#frequency_tab" }, { "id": "rs750321615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750321615" }, { "id": "rs750321615", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750321615" } ], "glycoeffect": [], "start_pos": 3500, "end_pos": 3500, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046283", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3500", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs767560143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767560143" }, { "id": "rs767560143", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767560143" }, { "id": "rs767560143", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767560143#frequency_tab" }, { "id": "rs767560143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767560143" } ], "glycoeffect": [], "start_pos": 3500, "end_pos": 3500, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046282", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750321615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750321615" }, { "id": "rs750321615", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750321615" }, { "id": "rs750321615", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750321615#frequency_tab" }, { "id": "rs750321615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750321615" } ], "glycoeffect": [], "start_pos": 3500, "end_pos": 3500, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046283", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761900208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761900208" }, { "id": "rs761900208", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761900208" }, { "id": "rs761900208", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761900208" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3501, "end_pos": 3501, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046279", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3501", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs532375501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532375501" }, { "id": "rs532375501", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532375501" }, { "id": "rs532375501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532375501" }, { "id": "rs532375501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs532375501#frequency_tab" }, { "id": "rs532375501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs532375501" }, { "id": "rs532375501", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532375501" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3503, "end_pos": 3503, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046273", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3503", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs532375501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532375501" }, { "id": "rs532375501", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532375501" }, { "id": "rs532375501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532375501" }, { "id": "rs532375501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs532375501#frequency_tab" }, { "id": "rs532375501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs532375501" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3503, "end_pos": 3503, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046273", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3503", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs960528157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs960528157" }, { "id": "rs960528157", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs960528157" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3503, "end_pos": 3503, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046274", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3503", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252428089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252428089" }, { "id": "rs1252428089", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252428089" } ], "glycoeffect": [], "start_pos": 3504, "end_pos": 3504, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046270", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3504", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759767266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759767266" }, { "id": "rs759767266", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759767266" }, { "id": "rs759767266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759767266#frequency_tab" }, { "id": "rs759767266", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759767266" } ], "glycoeffect": [], "start_pos": 3504, "end_pos": 3504, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046271", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3504", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759767266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759767266" }, { "id": "rs759767266", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759767266" }, { "id": "rs759767266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759767266#frequency_tab" }, { "id": "rs759767266", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759767266" } ], "glycoeffect": [], "start_pos": 3504, "end_pos": 3504, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046271", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3504", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776866246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776866246" }, { "id": "rs1776866246", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776866246" } ], "glycoeffect": [], "start_pos": 3506, "end_pos": 3506, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046265", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3506", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554310680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554310680" }, { "id": "rs1554310680", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1554310680" } ], "glycoeffect": [], "start_pos": 3507, "end_pos": 3507, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046261", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3507", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1308753900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308753900" }, { "id": "rs1308753900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1308753900#frequency_tab" }, { "id": "rs1308753900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308753900" } ], "glycoeffect": [], "start_pos": 3508, "end_pos": 3508, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046258", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3508", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151887398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151887398" }, { "id": "rs2151887398", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151887398" } ], "glycoeffect": [], "start_pos": 3508, "end_pos": 3508, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046259", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3508", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs565027700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565027700" } ], "glycoeffect": [], "start_pos": 3509, "end_pos": 3509, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046256", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3509", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs961333651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs961333651" }, { "id": "rs961333651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs961333651" } ], "glycoeffect": [], "start_pos": 3509, "end_pos": 3509, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046255", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3509", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs961333651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs961333651" }, { "id": "rs961333651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs961333651" } ], "glycoeffect": [], "start_pos": 3509, "end_pos": 3509, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046255", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3509", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs565027700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565027700" }, { "id": "rs565027700", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565027700" }, { "id": "rs565027700", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565027700" }, { "id": "rs565027700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565027700" } ], "glycoeffect": [], "start_pos": 3509, "end_pos": 3509, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046256", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P3509", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780417560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780417560" }, { "id": "rs1780417560", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780417560#frequency_tab" } ], "glycoeffect": [], "start_pos": 350, "end_pos": 350, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096804", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G350", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1250425169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250425169" }, { "id": "rs1250425169", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1250425169#frequency_tab" }, { "id": "rs1250425169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250425169" } ], "glycoeffect": [], "start_pos": 350, "end_pos": 350, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096805", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G350", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs1355743559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355743559" }, { "id": "rs1355743559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355743559" } ], "glycoeffect": [], "start_pos": 3511, "end_pos": 3511, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046250", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3511, "end_pos": 3511, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046248", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K3511", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1294860920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294860920" }, { "id": "rs1294860920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294860920" } ], "glycoeffect": [], "start_pos": 3511, "end_pos": 3511, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046249", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151887367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151887367" }, { "id": "rs2151887367", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151887367" } ], "glycoeffect": [], "start_pos": 3512, "end_pos": 3512, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046247", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3512", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756246872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756246872" }, { "id": "rs756246872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756246872" } ], "glycoeffect": [], "start_pos": 3512, "end_pos": 3512, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046246", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3512", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771230373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771230373" }, { "id": "rs771230373", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771230373" }, { "id": "rs771230373", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771230373#frequency_tab" }, { "id": "rs771230373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771230373" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3513, "end_pos": 3513, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046244", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3513", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761029741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761029741" }, { "id": "rs761029741", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761029741" }, { "id": "rs761029741", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761029741" } ], "glycoeffect": [], "start_pos": 3516, "end_pos": 3516, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046235", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3516", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1170119911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170119911" }, { "id": "rs1170119911", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170119911" } ], "glycoeffect": [], "start_pos": 3517, "end_pos": 3517, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046231", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3517", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772551568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772551568" }, { "id": "rs772551568", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772551568" }, { "id": "rs772551568", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772551568" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3518, "end_pos": 3518, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046229", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776861628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776861628" }, { "id": "rs1776861628", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776861628" } ], "glycoeffect": [], "start_pos": 3519, "end_pos": 3519, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046225", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3519", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1186193202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186193202" }, { "id": "rs1186193202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186193202#frequency_tab" }, { "id": "rs1186193202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186193202" } ], "glycoeffect": [], "start_pos": 3519, "end_pos": 3519, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046226", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3519", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776861338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776861338" }, { "id": "rs1776861338", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776861338#frequency_tab" } ], "glycoeffect": [], "start_pos": 3520, "end_pos": 3520, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046223", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3520", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1423610747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423610747" }, { "id": "rs1423610747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423610747" } ], "glycoeffect": [], "start_pos": 3520, "end_pos": 3520, "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046222", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3520", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776861338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776861338" }, { "id": "rs1776861338", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776861338#frequency_tab" } ], "glycoeffect": [], "start_pos": 3520, "end_pos": 3520, "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046223", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3520", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778455311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778455311" }, { "id": "rs778455311", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778455311" } ], "glycoeffect": [], "start_pos": 3521, "end_pos": 3521, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046219", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3521", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364307186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364307186" }, { "id": "rs1364307186", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1364307186#frequency_tab" }, { "id": "rs1364307186", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364307186" } ], "glycoeffect": [], "start_pos": 3522, "end_pos": 3522, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046216", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3522", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1251787131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251787131" }, { "id": "rs1251787131", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1251787131#frequency_tab" }, { "id": "rs1251787131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1251787131" } ], "glycoeffect": [], "start_pos": 3522, "end_pos": 3522, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046217", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3522", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1315486410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315486410" }, { "id": "rs1315486410", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315486410" }, { "id": "rs1315486410", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1315486410" } ], "glycoeffect": [], "start_pos": 3523, "end_pos": 3523, "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046213", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3523", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2151887283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151887283" }, { "id": "rs2151887283", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151887283" } ], "glycoeffect": [], "start_pos": 3524, "end_pos": 3524, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046210", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3524", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768081210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768081210" }, { "id": "rs768081210", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768081210" }, { "id": "rs768081210", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768081210#frequency_tab" }, { "id": "rs768081210", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768081210" } ], "glycoeffect": [], "start_pos": 3525, "end_pos": 3525, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046208", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748920229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748920229" }, { "id": "rs748920229", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748920229" }, { "id": "rs748920229", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748920229" }, { "id": "rs748920229", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748920229#frequency_tab" }, { "id": "rs748920229", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748920229" } ], "glycoeffect": [], "start_pos": 3525, "end_pos": 3525, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046207", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768081210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768081210" }, { "id": "rs768081210", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768081210" }, { "id": "rs768081210", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768081210#frequency_tab" }, { "id": "rs768081210", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768081210" } ], "glycoeffect": [], "start_pos": 3525, "end_pos": 3525, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046208", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1405672269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405672269" } ], "glycoeffect": [], "start_pos": 3527, "end_pos": 3527, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046203", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3527", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201589523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201589523" }, { "id": "rs201589523", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201589523" }, { "id": "rs201589523", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201589523" }, { "id": "rs201589523", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201589523#frequency_tab" }, { "id": "rs201589523", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201589523" } ], "glycoeffect": [], "start_pos": 3528, "end_pos": 3528, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046198", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00549451", "site_lbl": "P3528", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201589523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201589523" }, { "id": "rs201589523", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201589523" }, { "id": "rs201589523", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201589523" }, { "id": "rs201589523", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201589523#frequency_tab" }, { "id": "rs201589523", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201589523" } ], "glycoeffect": [], "start_pos": 3528, "end_pos": 3528, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046198", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.00549451", "site_lbl": "P3528", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750231784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750231784" }, { "id": "rs750231784", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750231784" }, { "id": "rs750231784", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750231784#frequency_tab" }, { "id": "rs750231784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750231784" } ], "glycoeffect": [], "start_pos": 3528, "end_pos": 3528, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046199", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3528", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs560904821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560904821" }, { "id": "rs560904821", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560904821" }, { "id": "rs560904821", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560904821" }, { "id": "rs560904821", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs560904821" } ], "glycoeffect": [], "start_pos": 3529, "end_pos": 3529, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046196", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V3529", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759259512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759259512" }, { "id": "rs759259512", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759259512" }, { "id": "rs759259512", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759259512" } ], "glycoeffect": [], "start_pos": 352, "end_pos": 352, "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096797", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1308075225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308075225" }, { "id": "rs1308075225", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1308075225#frequency_tab" }, { "id": "rs1308075225", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308075225" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3530, "end_pos": 3530, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046193", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3530", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751486929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751486929" }, { "id": "rs751486929", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751486929" }, { "id": "rs751486929", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751486929" } ], "glycoeffect": [], "start_pos": 3531, "end_pos": 3531, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046190", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1393038990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393038990" }, { "id": "rs1393038990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393038990" } ], "glycoeffect": [], "start_pos": 3532, "end_pos": 3532, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046187", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3532", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1371142796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371142796" }, { "id": "rs1371142796", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371142796" }, { "id": "rs1371142796", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1371142796" } ], "glycoeffect": [], "start_pos": 3533, "end_pos": 3533, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32046183", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3533", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs965356832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs965356832" }, { "id": "rs965356832", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs965356832#frequency_tab" } ], "glycoeffect": [], "start_pos": 3533, "end_pos": 3533, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046184", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3533", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377661896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377661896" }, { "id": "rs377661896", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377661896" }, { "id": "rs377661896", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377661896#frequency_tab" }, { "id": "rs377661896", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377661896" } ], "glycoeffect": [], "start_pos": 3534, "end_pos": 3534, "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046180", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3534", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483391668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483391668" } ], "glycoeffect": [], "start_pos": 3534, "end_pos": 3534, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046181", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3534", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776854650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776854650" }, { "id": "rs1776854650", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776854650" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3535, "end_pos": 3535, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32046177", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3535", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776789972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776789972" }, { "id": "rs1776789972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776789972" } ], "glycoeffect": [], "start_pos": 3536, "end_pos": 3536, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045326", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3536", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1456013737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1456013737" }, { "id": "rs1456013737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1456013737" } ], "glycoeffect": [], "start_pos": 3539, "end_pos": 3539, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045317", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3539", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1174812768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174812768" }, { "id": "rs1174812768", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174812768" } ], "glycoeffect": [], "start_pos": 3539, "end_pos": 3539, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045318", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3539", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582477034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582477034" }, { "id": "rs1582477034", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1582477034" } ], "glycoeffect": [], "start_pos": 353, "end_pos": 353, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096795", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V353", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1249952111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249952111" }, { "id": "rs1249952111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249952111" } ], "glycoeffect": [], "start_pos": 3542, "end_pos": 3542, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045308", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3542", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776788354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776788354" }, { "id": "rs1776788354", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776788354" } ], "glycoeffect": [], "start_pos": 3542, "end_pos": 3542, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045309", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3542", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755541448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755541448" } ], "glycoeffect": [], "start_pos": 3542, "end_pos": 3542, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045309GT", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3542", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs1776787861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776787861" }, { "id": "rs1776787861", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776787861" } ], "glycoeffect": [], "start_pos": 3543, "end_pos": 3543, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045305", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3543", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1379154957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379154957" }, { "id": "rs1379154957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379154957" } ], "glycoeffect": [], "start_pos": 3545, "end_pos": 3545, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045300", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3545", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1379154957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379154957" }, { "id": "rs1379154957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379154957" } ], "glycoeffect": [], "start_pos": 3545, "end_pos": 3545, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045300", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3545", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196176381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196176381" }, { "id": "rs1196176381", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196176381" }, { "id": "rs1196176381", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1196176381" } ], "glycoeffect": [], "start_pos": 3546, "end_pos": 3546, "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045295", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3546", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1450641112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450641112" }, { "id": "rs1450641112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450641112" } ], "glycoeffect": [], "start_pos": 3547, "end_pos": 3547, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045293", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3547", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1181873630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181873630" }, { "id": "rs1181873630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1181873630" } ], "glycoeffect": [], "start_pos": 3548, "end_pos": 3548, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045291", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3548", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776786532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776786532" }, { "id": "rs1776786532", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776786532#frequency_tab" } ], "glycoeffect": [], "start_pos": 3548, "end_pos": 3548, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045290", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3548", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1181873630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181873630" }, { "id": "rs1181873630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1181873630" } ], "glycoeffect": [], "start_pos": 3548, "end_pos": 3548, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045291", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3548", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776294211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776294211" }, { "id": "rs776294211", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776294211" }, { "id": "rs776294211", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776294211#frequency_tab" }, { "id": "rs776294211", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776294211" } ], "glycoeffect": [], "start_pos": 354, "end_pos": 354, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096792", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776786066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776786066" }, { "id": "rs1776786066", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776786066" } ], "glycoeffect": [], "start_pos": 3550, "end_pos": 3550, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045284", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3550", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1262016110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262016110" }, { "id": "rs1262016110", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262016110" }, { "id": "rs1262016110", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1262016110" } ], "glycoeffect": [], "start_pos": 3551, "end_pos": 3551, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045281", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3551", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2151885973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151885973" }, { "id": "rs2151885973", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151885973" } ], "glycoeffect": [], "start_pos": 3552, "end_pos": 3552, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045278", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3552", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762341900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762341900" }, { "id": "rs762341900", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762341900" }, { "id": "rs762341900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762341900" } ], "glycoeffect": [], "start_pos": 3552, "end_pos": 3552, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045279", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3552", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151885970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151885970" }, { "id": "rs2151885970", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2151885970" } ], "glycoeffect": [], "start_pos": 3553, "end_pos": 3553, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045276", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774742347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774742347" }, { "id": "rs774742347", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774742347" }, { "id": "rs774742347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774742347" } ], "glycoeffect": [], "start_pos": 3555, "end_pos": 3555, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045270", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3555", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774742347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774742347" }, { "id": "rs774742347", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774742347" }, { "id": "rs774742347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774742347" } ], "glycoeffect": [], "start_pos": 3555, "end_pos": 3555, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045270", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3555", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776783765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776783765" }, { "id": "rs1776783765", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776783765" } ], "glycoeffect": [], "start_pos": 3556, "end_pos": 3556, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045266", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3556", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776784008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776784008" }, { "id": "rs1776784008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776784008" } ], "glycoeffect": [], "start_pos": 3556, "end_pos": 3556, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045267", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3556", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768153990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768153990" }, { "id": "rs768153990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768153990" }, { "id": "rs768153990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768153990" } ], "glycoeffect": [], "start_pos": 3558, "end_pos": 3558, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045261", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3558", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768153990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768153990" }, { "id": "rs768153990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768153990" }, { "id": "rs768153990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768153990" } ], "glycoeffect": [], "start_pos": 3558, "end_pos": 3558, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045261", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3558", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs41267126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41267126" }, { "id": "rs41267126", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41267126" }, { "id": "rs41267126", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41267126" }, { "id": "rs41267126", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41267126" } ], "glycoeffect": [], "start_pos": 3558, "end_pos": 3558, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045260", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3558", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096789", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G355", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs770519164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770519164" }, { "id": "rs770519164", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770519164" }, { "id": "rs770519164", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770519164" }, { "id": "rs770519164", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770519164" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096790", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G355", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1301290102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301290102" }, { "id": "rs1301290102", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301290102" } ], "glycoeffect": [], "start_pos": 3560, "end_pos": 3560, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045254", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3560", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776782469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776782469" }, { "id": "rs1776782469", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776782469" } ], "glycoeffect": [], "start_pos": 3560, "end_pos": 3560, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045255", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3560", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232656139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232656139" }, { "id": "rs1232656139", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232656139" } ], "glycoeffect": [], "start_pos": 3561, "end_pos": 3561, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045251", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232656139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232656139" }, { "id": "rs1232656139", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232656139" } ], "glycoeffect": [], "start_pos": 3561, "end_pos": 3561, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045251", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151885913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151885913" }, { "id": "rs2151885913", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151885913" } ], "glycoeffect": [], "start_pos": 3561, "end_pos": 3561, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045252", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1298007986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1298007986" }, { "id": "rs1298007986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1298007986" } ], "glycoeffect": [], "start_pos": 3562, "end_pos": 3562, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045248", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3562", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1327189852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327189852" }, { "id": "rs1327189852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327189852" } ], "glycoeffect": [], "start_pos": 3562, "end_pos": 3562, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045249", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3562", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1360279702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360279702" }, { "id": "rs1360279702", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1360279702#frequency_tab" }, { "id": "rs1360279702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360279702" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3563, "end_pos": 3563, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045246", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3563", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781098688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781098688" }, { "id": "rs781098688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781098688" }, { "id": "rs781098688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781098688" }, { "id": "rs781098688", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781098688" } ], "glycoeffect": [], "start_pos": 3564, "end_pos": 3564, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045243", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3564", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1191422876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191422876" }, { "id": "rs1191422876", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1191422876" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3565, "end_pos": 3565, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045239", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3565", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1373219922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373219922" }, { "id": "rs1373219922", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373219922" }, { "id": "rs1373219922", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1373219922" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3567, "end_pos": 3567, "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045234", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3567", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs549724978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549724978" }, { "id": "rs549724978", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs549724978" }, { "id": "rs549724978", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549724978" }, { "id": "rs549724978", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs549724978" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3567, "end_pos": 3567, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045233", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3567", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201026408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201026408" }, { "id": "rs201026408", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201026408#frequency_tab" }, { "id": "rs201026408", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201026408" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3568, "end_pos": 3568, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045231", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3568", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151885840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151885840" }, { "id": "rs2151885840", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151885840" } ], "glycoeffect": [], "start_pos": 3569, "end_pos": 3569, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045227", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3569", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs746545933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746545933" }, { "id": "rs746545933", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746545933" }, { "id": "rs746545933", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746545933#frequency_tab" }, { "id": "rs746545933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746545933" }, { "id": "rs746545933", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746545933" } ], "glycoeffect": [], "start_pos": 356, "end_pos": 356, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096787", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R356", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2483761799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483761799" } ], "glycoeffect": [], "start_pos": 356, "end_pos": 356, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096786", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211372026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211372026" }, { "id": "rs1211372026", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211372026" } ], "glycoeffect": [], "start_pos": 3570, "end_pos": 3570, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045225", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3570", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3571, "end_pos": 3571, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045221", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3571", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3572, "end_pos": 3572, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045217", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M3572", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1276434901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276434901" }, { "id": "rs1276434901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276434901" } ], "glycoeffect": [], "start_pos": 3572, "end_pos": 3572, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045218", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3572", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776776795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776776795" }, { "id": "rs1776776795", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776776795#frequency_tab" } ], "glycoeffect": [], "start_pos": 3572, "end_pos": 3572, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045219", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3572", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs531605025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531605025" }, { "id": "rs531605025", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531605025" }, { "id": "rs531605025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531605025" }, { "id": "rs531605025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs531605025#frequency_tab" }, { "id": "rs531605025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs531605025" } ], "glycoeffect": [], "start_pos": 3573, "end_pos": 3573, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045216", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs561193576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561193576" }, { "id": "rs561193576", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561193576" }, { "id": "rs561193576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561193576" }, { "id": "rs561193576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561193576" } ], "glycoeffect": [], "start_pos": 3573, "end_pos": 3573, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045215", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs561193576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561193576" }, { "id": "rs561193576", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561193576" }, { "id": "rs561193576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561193576" }, { "id": "rs561193576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561193576" } ], "glycoeffect": [], "start_pos": 3573, "end_pos": 3573, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045215", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs531605025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531605025" }, { "id": "rs531605025", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531605025" }, { "id": "rs531605025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531605025" }, { "id": "rs531605025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs531605025#frequency_tab" }, { "id": "rs531605025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs531605025" } ], "glycoeffect": [], "start_pos": 3573, "end_pos": 3573, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045216", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750674027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750674027" }, { "id": "rs750674027", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750674027" }, { "id": "rs750674027", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750674027#frequency_tab" }, { "id": "rs750674027", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750674027" } ], "glycoeffect": [], "start_pos": 3574, "end_pos": 3574, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045213", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3574", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776775211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776775211" }, { "id": "rs1776775211", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776775211" } ], "glycoeffect": [], "start_pos": 3574, "end_pos": 3574, "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045212", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3574", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762095837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762095837" }, { "id": "rs762095837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762095837" }, { "id": "rs762095837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762095837" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3575, "end_pos": 3575, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045209", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3575", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs62402693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62402693" }, { "id": "rs62402693", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs62402693" }, { "id": "rs62402693", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62402693" }, { "id": "rs62402693", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs62402693" }, { "id": "rs62402693", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs62402693" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3575, "end_pos": 3575, "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045210", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3575", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs762095837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762095837" }, { "id": "rs762095837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762095837" }, { "id": "rs762095837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762095837" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3575, "end_pos": 3575, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045209", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3575", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483384436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483384436" } ], "glycoeffect": [], "start_pos": 3576, "end_pos": 3576, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045207", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3576", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763565992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763565992" }, { "id": "rs763565992", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763565992" }, { "id": "rs763565992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763565992" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3577, "end_pos": 3577, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045204", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3577", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769461206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769461206" }, { "id": "rs769461206", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769461206" }, { "id": "rs769461206", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769461206" }, { "id": "rs769461206", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769461206" } ], "glycoeffect": [], "start_pos": 3578, "end_pos": 3578, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045201", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3578", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs745472837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745472837" }, { "id": "rs745472837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745472837" }, { "id": "rs745472837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745472837" } ], "glycoeffect": [], "start_pos": 3579, "end_pos": 3579, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045198", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3579", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1265647269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1265647269" }, { "id": "rs1265647269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1265647269#frequency_tab" }, { "id": "rs1265647269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1265647269" } ], "glycoeffect": [], "start_pos": 357, "end_pos": 357, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096782", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs776441344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776441344" }, { "id": "rs776441344", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776441344" }, { "id": "rs776441344", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776441344" }, { "id": "rs776441344", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs776441344" } ], "glycoeffect": [], "start_pos": 3581, "end_pos": 3581, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045192", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3581", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs527326197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527326197" }, { "id": "rs527326197", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527326197" }, { "id": "rs527326197", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527326197" }, { "id": "rs527326197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs527326197" } ], "glycoeffect": [], "start_pos": 3582, "end_pos": 3582, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045189", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3582", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs527326197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527326197" }, { "id": "rs527326197", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527326197" }, { "id": "rs527326197", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527326197" }, { "id": "rs527326197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs527326197" }, { "id": "rs527326197", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527326197" } ], "glycoeffect": [], "start_pos": 3582, "end_pos": 3582, "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045189", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3582", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3583, "end_pos": 3583, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045186", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F3583", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1463698886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463698886" }, { "id": "rs1463698886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463698886" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3585, "end_pos": 3585, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045180", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3585", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1422502096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422502096" }, { "id": "rs1422502096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1422502096" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3585, "end_pos": 3585, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045179", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3585", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs560288296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560288296" }, { "id": "rs560288296", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560288296" }, { "id": "rs560288296", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560288296" }, { "id": "rs560288296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs560288296" }, { "id": "rs560288296", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560288296" } ], "glycoeffect": [], "start_pos": 3587, "end_pos": 3587, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045174", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3587", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs748153392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748153392" }, { "id": "rs748153392", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748153392" }, { "id": "rs748153392", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748153392" } ], "glycoeffect": [], "start_pos": 3589, "end_pos": 3589, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045168", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3589", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196860594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196860594" }, { "id": "rs1196860594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196860594" } ], "glycoeffect": [], "start_pos": 3589, "end_pos": 3589, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045166", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3589", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780065388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780065388" }, { "id": "rs780065388", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780065388" }, { "id": "rs780065388", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780065388" } ], "glycoeffect": [], "start_pos": 3589, "end_pos": 3589, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045167", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3589", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777302650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777302650" }, { "id": "rs777302650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777302650" }, { "id": "rs777302650", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777302650#frequency_tab" }, { "id": "rs777302650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777302650" }, { "id": "rs777302650", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777302650" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096781", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V358", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs777302650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777302650" }, { "id": "rs777302650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777302650" }, { "id": "rs777302650", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777302650#frequency_tab" }, { "id": "rs777302650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777302650" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096781", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V358", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1317466306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317466306" }, { "id": "rs1317466306", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317466306" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3590, "end_pos": 3590, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045165", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3590", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1274051841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274051841" }, { "id": "rs1274051841", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274051841" } ], "glycoeffect": [], "start_pos": 3591, "end_pos": 3591, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045162", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3591", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1235450055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235450055" }, { "id": "rs1235450055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235450055" } ], "glycoeffect": [], "start_pos": 3592, "end_pos": 3592, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045159", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3592", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201341873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201341873" }, { "id": "rs201341873", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201341873" }, { "id": "rs201341873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201341873" }, { "id": "rs201341873", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201341873" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3593, "end_pos": 3593, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045155", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3593", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs201341873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201341873" }, { "id": "rs201341873", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201341873" }, { "id": "rs201341873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201341873" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3593, "end_pos": 3593, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045155", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3593", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139945330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139945330" }, { "id": "rs139945330", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139945330" }, { "id": "rs139945330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139945330" } ], "glycoeffect": [], "start_pos": 3595, "end_pos": 3595, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045150", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3595", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139945330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139945330" }, { "id": "rs139945330", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139945330" }, { "id": "rs139945330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139945330" } ], "glycoeffect": [], "start_pos": 3595, "end_pos": 3595, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045150", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3595", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751849136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751849136" }, { "id": "rs751849136", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751849136" }, { "id": "rs751849136", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751849136" } ], "glycoeffect": [], "start_pos": 3596, "end_pos": 3596, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045147", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751849136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751849136" }, { "id": "rs751849136", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751849136" }, { "id": "rs751849136", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751849136" } ], "glycoeffect": [], "start_pos": 3596, "end_pos": 3596, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045147", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3597, "end_pos": 3597, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045143", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3597", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs764559504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764559504" }, { "id": "rs764559504", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764559504" }, { "id": "rs764559504", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764559504" } ], "glycoeffect": [], "start_pos": 3597, "end_pos": 3597, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045144", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3597", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs763329460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763329460" }, { "id": "rs763329460", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763329460" }, { "id": "rs763329460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763329460" }, { "id": "rs763329460", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763329460" } ], "glycoeffect": [], "start_pos": 3598, "end_pos": 3598, "sequence_org": "Q", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045140", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3598", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs763329460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763329460" }, { "id": "rs763329460", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763329460" }, { "id": "rs763329460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763329460" } ], "glycoeffect": [], "start_pos": 3598, "end_pos": 3598, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045140", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3598", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776166336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776166336" }, { "id": "rs776166336", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776166336" }, { "id": "rs776166336", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776166336" } ], "glycoeffect": [], "start_pos": 3599, "end_pos": 3599, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045137", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3599", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776166336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776166336" }, { "id": "rs776166336", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776166336" }, { "id": "rs776166336", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776166336" } ], "glycoeffect": [], "start_pos": 3599, "end_pos": 3599, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045137", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3599", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868405663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868405663" }, { "id": "rs868405663", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs868405663#frequency_tab" }, { "id": "rs868405663", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs868405663" } ], "glycoeffect": [], "start_pos": 359, "end_pos": 359, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096777", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1290280315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1290280315" }, { "id": "rs1290280315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1290280315#frequency_tab" }, { "id": "rs1290280315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1290280315" } ], "glycoeffect": [], "start_pos": 359, "end_pos": 359, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096778", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868405663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868405663" }, { "id": "rs868405663", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs868405663#frequency_tab" }, { "id": "rs868405663", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs868405663" } ], "glycoeffect": [], "start_pos": 359, "end_pos": 359, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096777", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780516993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780516993" }, { "id": "rs1780516993", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780516993#frequency_tab" } ], "glycoeffect": [], "start_pos": 35, "end_pos": 35, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098095", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764787467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764787467" }, { "id": "rs764787467", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764787467" }, { "id": "rs764787467", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764787467" } ], "glycoeffect": [], "start_pos": 3601, "end_pos": 3601, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045132", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3601", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3601, "end_pos": 3601, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045131", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L3601", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1234549642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1234549642" }, { "id": "rs1234549642", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1234549642" } ], "glycoeffect": [], "start_pos": 3602, "end_pos": 3602, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045128", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3602", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs142627164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142627164" }, { "id": "rs142627164", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142627164" }, { "id": "rs142627164", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142627164" }, { "id": "rs142627164", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142627164#frequency_tab" }, { "id": "rs142627164", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142627164" } ], "glycoeffect": [], "start_pos": 3602, "end_pos": 3602, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045129", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3602", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs142627164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142627164" }, { "id": "rs142627164", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142627164" }, { "id": "rs142627164", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142627164" }, { "id": "rs142627164", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142627164#frequency_tab" }, { "id": "rs142627164", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142627164" }, { "id": "rs142627164", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142627164" } ], "glycoeffect": [], "start_pos": 3602, "end_pos": 3602, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045129", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3602", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs772848495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772848495" }, { "id": "rs772848495", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772848495" }, { "id": "rs772848495", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772848495" } ], "glycoeffect": [], "start_pos": 3603, "end_pos": 3603, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045126", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3603", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772848495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772848495" }, { "id": "rs772848495", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772848495" }, { "id": "rs772848495", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772848495" }, { "id": "rs772848495", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772848495" } ], "glycoeffect": [], "start_pos": 3603, "end_pos": 3603, "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045126", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3603", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3604, "end_pos": 3604, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045122", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3604", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748029270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748029270" }, { "id": "rs748029270", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748029270" }, { "id": "rs748029270", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748029270" } ], "glycoeffect": [], "start_pos": 3604, "end_pos": 3604, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045123", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3604", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778834771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778834771" }, { "id": "rs778834771", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778834771" }, { "id": "rs778834771", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778834771" } ], "glycoeffect": [], "start_pos": 3604, "end_pos": 3604, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045122", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3604", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1258403550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1258403550" }, { "id": "rs1258403550", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1258403550" } ], "glycoeffect": [], "start_pos": 3605, "end_pos": 3605, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045118", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3605", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781300054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781300054" }, { "id": "rs781300054", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781300054" }, { "id": "rs781300054", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781300054" } ], "glycoeffect": [], "start_pos": 3605, "end_pos": 3605, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045119", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3605", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1353398614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1353398614" }, { "id": "rs1353398614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1353398614" } ], "glycoeffect": [], "start_pos": 3606, "end_pos": 3606, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045117", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3606", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1240147713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240147713" }, { "id": "rs1240147713", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1240147713" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3607, "end_pos": 3607, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045114", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751838502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751838502" }, { "id": "rs751838502", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751838502" }, { "id": "rs751838502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751838502" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3607, "end_pos": 3607, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045112", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757392455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757392455" }, { "id": "rs757392455", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757392455" }, { "id": "rs757392455", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757392455#frequency_tab" }, { "id": "rs757392455", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757392455" } ], "glycoeffect": [], "start_pos": 3607, "end_pos": 3607, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045113", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1378245502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378245502" }, { "id": "rs1378245502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378245502" }, { "id": "rs1378245502", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1378245502" } ], "glycoeffect": [], "start_pos": 360, "end_pos": 360, "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096773", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W360", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1378245502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378245502" }, { "id": "rs1378245502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378245502" } ], "glycoeffect": [], "start_pos": 360, "end_pos": 360, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096773", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W360", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777951697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777951697" }, { "id": "rs777951697", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777951697" }, { "id": "rs777951697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777951697" } ], "glycoeffect": [], "start_pos": 3610, "end_pos": 3610, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045105", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3610", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3610, "end_pos": 3610, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045105", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L3610", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1347793638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347793638" }, { "id": "rs1347793638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347793638" } ], "glycoeffect": [], "start_pos": 3611, "end_pos": 3611, "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045102", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3611", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758807159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758807159" }, { "id": "rs758807159", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758807159" }, { "id": "rs758807159", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758807159" } ], "glycoeffect": [], "start_pos": 3611, "end_pos": 3611, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045101", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3611", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3612, "end_pos": 3612, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045098", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S3612", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1401092247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401092247" }, { "id": "rs1401092247", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401092247" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3612, "end_pos": 3612, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045098", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3612", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753192313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753192313" }, { "id": "rs753192313", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753192313" }, { "id": "rs753192313", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753192313" }, { "id": "rs753192313", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753192313" } ], "glycoeffect": [], "start_pos": 3613, "end_pos": 3613, "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045095", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3613", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs765837801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765837801" }, { "id": "rs765837801", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765837801" }, { "id": "rs765837801", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765837801#frequency_tab" }, { "id": "rs765837801", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765837801" } ], "glycoeffect": [], "start_pos": 3614, "end_pos": 3614, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045093", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3614", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439073426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439073426" }, { "id": "rs1439073426", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1439073426#frequency_tab" }, { "id": "rs1439073426", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439073426" } ], "glycoeffect": [], "start_pos": 3616, "end_pos": 3616, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045087", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3616", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1439073426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439073426" }, { "id": "rs1439073426", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1439073426#frequency_tab" }, { "id": "rs1439073426", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439073426" }, { "id": "rs1439073426", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1439073426" } ], "glycoeffect": [], "start_pos": 3616, "end_pos": 3616, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045087", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3616", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3617, "end_pos": 3617, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045082", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S3617", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3618, "end_pos": 3618, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045081", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T3618", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1395744501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1395744501" }, { "id": "rs1395744501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1395744501" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3618, "end_pos": 3618, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045080", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3618", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3618, "end_pos": 3618, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045081", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T3618", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1395744501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1395744501" }, { "id": "rs1395744501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1395744501" } ], "glycoeffect": [], "start_pos": 3618, "end_pos": 3618, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045080", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3618", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554301867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554301867" }, { "id": "rs1554301867", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1554301867" } ], "glycoeffect": [], "start_pos": 3619, "end_pos": 3619, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045077", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3619", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760182376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760182376" }, { "id": "rs760182376", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760182376" }, { "id": "rs760182376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760182376" }, { "id": "rs760182376", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760182376" } ], "glycoeffect": [], "start_pos": 3619, "end_pos": 3619, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045078", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3619", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1780413660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780413660" }, { "id": "rs1780413660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780413660" } ], "glycoeffect": [], "start_pos": 361, "end_pos": 361, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096771", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P361", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs765951340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765951340" }, { "id": "rs765951340", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765951340" }, { "id": "rs765951340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765951340" }, { "id": "rs765951340", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765951340" } ], "glycoeffect": [], "start_pos": 3621, "end_pos": 3621, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045071", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3621", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs576654330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576654330" }, { "id": "rs576654330", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs576654330" }, { "id": "rs576654330", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576654330" }, { "id": "rs576654330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs576654330" } ], "glycoeffect": [], "start_pos": 3621, "end_pos": 3621, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045072", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3621", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772936563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772936563" }, { "id": "rs772936563", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772936563" }, { "id": "rs772936563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772936563" } ], "glycoeffect": [], "start_pos": 3624, "end_pos": 3624, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045063", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3624", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761600284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761600284" }, { "id": "rs761600284", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761600284" }, { "id": "rs761600284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761600284" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3625, "end_pos": 3625, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045059", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3625", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761600284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761600284" }, { "id": "rs761600284", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761600284" }, { "id": "rs761600284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761600284" } ], "glycoeffect": [], "start_pos": 3625, "end_pos": 3625, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045059", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3625", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1349281580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349281580" }, { "id": "rs1349281580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349281580" } ], "glycoeffect": [], "start_pos": 3626, "end_pos": 3626, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045056", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1220478809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220478809" }, { "id": "rs1220478809", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220478809" } ], "glycoeffect": [], "start_pos": 3627, "end_pos": 3627, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045054", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3627", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768566517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768566517" }, { "id": "rs768566517", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768566517" }, { "id": "rs768566517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768566517" } ], "glycoeffect": [], "start_pos": 3627, "end_pos": 3627, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045053", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3627", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1273888971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273888971" }, { "id": "rs1273888971", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273888971" } ], "glycoeffect": [], "start_pos": 3628, "end_pos": 3628, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045051", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3628", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1431099600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431099600" }, { "id": "rs1431099600", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431099600" } ], "glycoeffect": [], "start_pos": 3629, "end_pos": 3629, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045048", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3629", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1437304758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437304758" }, { "id": "rs1437304758", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437304758" } ], "glycoeffect": [], "start_pos": 3629, "end_pos": 3629, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045047", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3629", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3629, "end_pos": 3629, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045048", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3629", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs375064065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375064065" }, { "id": "rs375064065", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375064065" }, { "id": "rs375064065", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375064065#frequency_tab" }, { "id": "rs375064065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375064065" } ], "glycoeffect": [], "start_pos": 362, "end_pos": 362, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096769", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G362", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs1296169861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1296169861" }, { "id": "rs1296169861", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1296169861" } ], "glycoeffect": [], "start_pos": 3630, "end_pos": 3630, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045044", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1362206704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1362206704" }, { "id": "rs1362206704", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1362206704" } ], "glycoeffect": [], "start_pos": 3630, "end_pos": 3630, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045045", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151885353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151885353" }, { "id": "rs2151885353", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151885353" } ], "glycoeffect": [], "start_pos": 3631, "end_pos": 3631, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045041", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3631", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151885353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151885353" }, { "id": "rs2151885353", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151885353" } ], "glycoeffect": [], "start_pos": 3631, "end_pos": 3631, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045041", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3631", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs565688746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565688746" }, { "id": "rs565688746", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565688746" }, { "id": "rs565688746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565688746" }, { "id": "rs565688746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565688746" }, { "id": "rs565688746", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565688746" } ], "glycoeffect": [], "start_pos": 3632, "end_pos": 3632, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045039", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3632", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs565688746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565688746" }, { "id": "rs565688746", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565688746" }, { "id": "rs565688746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565688746" }, { "id": "rs565688746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565688746" } ], "glycoeffect": [], "start_pos": 3632, "end_pos": 3632, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045039", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3632", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747145086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747145086" }, { "id": "rs747145086", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747145086" }, { "id": "rs747145086", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747145086" }, { "id": "rs747145086", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747145086" } ], "glycoeffect": [], "start_pos": 3632, "end_pos": 3632, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045038", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3632", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778064997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778064997" }, { "id": "rs778064997", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778064997" }, { "id": "rs778064997", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778064997" } ], "glycoeffect": [], "start_pos": 3634, "end_pos": 3634, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045033", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3634", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1486259709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486259709" }, { "id": "rs1486259709", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1486259709" }, { "id": "rs1486259709", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1486259709#frequency_tab" }, { "id": "rs1486259709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486259709" } ], "glycoeffect": [], "start_pos": 3635, "end_pos": 3635, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045029", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3635", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1486259709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486259709" }, { "id": "rs1486259709", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1486259709" }, { "id": "rs1486259709", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1486259709#frequency_tab" }, { "id": "rs1486259709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486259709" } ], "glycoeffect": [], "start_pos": 3635, "end_pos": 3635, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045029", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3635", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1486259709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486259709" }, { "id": "rs1486259709", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1486259709" }, { "id": "rs1486259709", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1486259709#frequency_tab" }, { "id": "rs1486259709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486259709" } ], "glycoeffect": [], "start_pos": 3635, "end_pos": 3635, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045029", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3635", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1193428353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193428353" }, { "id": "rs1193428353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193428353" } ], "glycoeffect": [], "start_pos": 3635, "end_pos": 3635, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045030", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3635", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3636, "end_pos": 3636, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045027", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L3636", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1283109067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283109067" }, { "id": "rs1283109067", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283109067" } ], "glycoeffect": [], "start_pos": 3636, "end_pos": 3636, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045026", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3636", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211538478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211538478" }, { "id": "rs1211538478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211538478" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3637, "end_pos": 3637, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045024", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3637", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211538478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211538478" }, { "id": "rs1211538478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211538478" } ], "glycoeffect": [], "start_pos": 3637, "end_pos": 3637, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045024", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3637", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776744394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776744394" }, { "id": "rs1776744394", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776744394" } ], "glycoeffect": [], "start_pos": 3639, "end_pos": 3639, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045016", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3639", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1370080519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370080519" }, { "id": "rs1370080519", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370080519" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 363, "end_pos": 363, "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096765", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1309932900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309932900" }, { "id": "rs1309932900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309932900" } ], "glycoeffect": [], "start_pos": 3640, "end_pos": 3640, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045014", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3640", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3640, "end_pos": 3640, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32045015", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3640", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs758763319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758763319" }, { "id": "rs758763319", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758763319" }, { "id": "rs758763319", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758763319" }, { "id": "rs758763319", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758763319" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3641, "end_pos": 3641, "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045011", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3641", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1342034056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342034056" }, { "id": "rs1342034056", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342034056" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3642, "end_pos": 3642, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045009", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3642", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1276024584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276024584" }, { "id": "rs1276024584", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276024584" } ], "glycoeffect": [], "start_pos": 3643, "end_pos": 3643, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32045006", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3643", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776715903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776715903" }, { "id": "rs1776715903", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776715903" } ], "glycoeffect": [], "start_pos": 3645, "end_pos": 3645, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044711", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1473543315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473543315" }, { "id": "rs1473543315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1473543315#frequency_tab" } ], "glycoeffect": [], "start_pos": 3645, "end_pos": 3645, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044710", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774102340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774102340" }, { "id": "rs774102340", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774102340" }, { "id": "rs774102340", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774102340" }, { "id": "rs774102340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774102340" } ], "glycoeffect": [], "start_pos": 3646, "end_pos": 3646, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044708", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3646", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1423702791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423702791" }, { "id": "rs1423702791", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423702791" } ], "glycoeffect": [], "start_pos": 3647, "end_pos": 3647, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044704", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3647", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168126232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168126232" }, { "id": "rs1168126232", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1168126232" } ], "glycoeffect": [], "start_pos": 3649, "end_pos": 3649, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044697", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3649", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1409382951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409382951" }, { "id": "rs1409382951", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1409382951" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3650, "end_pos": 3650, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044695", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3650", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1178644973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178644973" }, { "id": "rs1178644973", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178644973" } ], "glycoeffect": [], "start_pos": 3651, "end_pos": 3651, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044693", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3651", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776713809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776713809" }, { "id": "rs1776713809", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776713809" } ], "glycoeffect": [], "start_pos": 3653, "end_pos": 3653, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044687", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3653", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776713533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776713533" }, { "id": "rs1776713533", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776713533" } ], "glycoeffect": [], "start_pos": 3653, "end_pos": 3653, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044686", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3653", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582331094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582331094" }, { "id": "rs1582331094", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582331094" } ], "glycoeffect": [], "start_pos": 3653, "end_pos": 3653, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044685", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3653", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1246945346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246945346" }, { "id": "rs1246945346", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1246945346" }, { "id": "rs1246945346", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246945346" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3654, "end_pos": 3654, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044684", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3654", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776712643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776712643" }, { "id": "rs1776712643", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776712643" } ], "glycoeffect": [], "start_pos": 3655, "end_pos": 3655, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044681", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3655", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1333270064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333270064" }, { "id": "rs1333270064", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1333270064" } ], "glycoeffect": [], "start_pos": 3655, "end_pos": 3655, "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044680", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3655", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1235888378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235888378" }, { "id": "rs1235888378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235888378" } ], "glycoeffect": [], "start_pos": 3656, "end_pos": 3656, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044678", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3656", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1197595855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197595855" }, { "id": "rs1197595855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197595855" } ], "glycoeffect": [], "start_pos": 3657, "end_pos": 3657, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044675", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3657", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1468673202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468673202" }, { "id": "rs1468673202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468673202" } ], "glycoeffect": [], "start_pos": 3657, "end_pos": 3657, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044674", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3657", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1197595855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197595855" }, { "id": "rs1197595855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197595855" } ], "glycoeffect": [], "start_pos": 3657, "end_pos": 3657, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044675", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3657", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1457506403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457506403" }, { "id": "rs1457506403", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457506403" } ], "glycoeffect": [], "start_pos": 365, "end_pos": 365, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096760", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G365", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1457506403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457506403" }, { "id": "rs1457506403", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457506403" } ], "glycoeffect": [], "start_pos": 365, "end_pos": 365, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096760", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G365", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1320979368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320979368" }, { "id": "rs1320979368", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320979368" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3662, "end_pos": 3662, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044659", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3662", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1242316838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1242316838" }, { "id": "rs1242316838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1242316838" }, { "id": "rs1242316838", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1242316838" } ], "glycoeffect": [], "start_pos": 3666, "end_pos": 3666, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044648", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3666", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1277843350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1277843350" }, { "id": "rs1277843350", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1277843350" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3668, "end_pos": 3668, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044642", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3668", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1414190592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414190592" }, { "id": "rs1414190592", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1414190592" } ], "glycoeffect": [], "start_pos": 366, "end_pos": 366, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096756", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1330825000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330825000" }, { "id": "rs1330825000", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330825000" } ], "glycoeffect": [], "start_pos": 3672, "end_pos": 3672, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044629", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3672", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441878770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441878770" }, { "id": "rs1441878770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441878770" } ], "glycoeffect": [], "start_pos": 3674, "end_pos": 3674, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044623", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3674", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1292101502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292101502" }, { "id": "rs1292101502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292101502" } ], "glycoeffect": [], "start_pos": 3678, "end_pos": 3678, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044611", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3678", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1393186966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393186966" }, { "id": "rs1393186966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393186966" } ], "glycoeffect": [], "start_pos": 3678, "end_pos": 3678, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044612", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3678", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1457731318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457731318" }, { "id": "rs1457731318", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457731318" } ], "glycoeffect": [], "start_pos": 3679, "end_pos": 3679, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044608", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3679", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562876836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562876836" }, { "id": "rs1562876836", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562876836" } ], "glycoeffect": [], "start_pos": 367, "end_pos": 367, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096753", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs9380279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9380279" }, { "id": "rs9380279", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9380279" }, { "id": "rs9380279", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9380279" }, { "id": "rs9380279", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9380279#frequency_tab" }, { "id": "rs9380279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9380279" } ], "glycoeffect": [], "start_pos": 367, "end_pos": 367, "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096752", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D367", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1160485886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160485886" }, { "id": "rs1160485886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160485886" } ], "glycoeffect": [], "start_pos": 367, "end_pos": 367, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096754", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1160958972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160958972" }, { "id": "rs1160958972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160958972" } ], "glycoeffect": [], "start_pos": 3681, "end_pos": 3681, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044603", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3681", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776706902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776706902" }, { "id": "rs1776706902", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776706902" } ], "glycoeffect": [], "start_pos": 3682, "end_pos": 3682, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044599", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3682", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1177497432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177497432" }, { "id": "rs1177497432", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177497432" } ], "glycoeffect": [], "start_pos": 3683, "end_pos": 3683, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044595", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3683", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1377911672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377911672" }, { "id": "rs1377911672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377911672" } ], "glycoeffect": [], "start_pos": 3683, "end_pos": 3683, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044596", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3683", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1254765938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1254765938" }, { "id": "rs1254765938", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1254765938#frequency_tab" } ], "glycoeffect": [], "start_pos": 3683, "end_pos": 3683, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044597", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3683", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1269031374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1269031374" }, { "id": "rs1269031374", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1269031374" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3684, "end_pos": 3684, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044593", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3684", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1433357826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1433357826" }, { "id": "rs1433357826", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1433357826" } ], "glycoeffect": [], "start_pos": 3684, "end_pos": 3684, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044594", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3684", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763909762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763909762" }, { "id": "rs763909762", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763909762" }, { "id": "rs763909762", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763909762" }, { "id": "rs763909762", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763909762" } ], "glycoeffect": [], "start_pos": 3688, "end_pos": 3688, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044582", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3688", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763909762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763909762" }, { "id": "rs763909762", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763909762" }, { "id": "rs763909762", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763909762" }, { "id": "rs763909762", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763909762" } ], "glycoeffect": [], "start_pos": 3688, "end_pos": 3688, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044582", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3688", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1488035562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488035562" }, { "id": "rs1488035562", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1488035562" } ], "glycoeffect": [], "start_pos": 3688, "end_pos": 3688, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044581", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3688", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1034296895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1034296895" }, { "id": "rs1034296895", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1034296895#frequency_tab" }, { "id": "rs1034296895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1034296895" } ], "glycoeffect": [], "start_pos": 368, "end_pos": 368, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096751", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C368", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582330615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582330615" }, { "id": "rs1582330615", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582330615" } ], "glycoeffect": [], "start_pos": 3691, "end_pos": 3691, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044572", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3691", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1218680496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218680496" }, { "id": "rs1218680496", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218680496" } ], "glycoeffect": [], "start_pos": 3692, "end_pos": 3692, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044569", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3692", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776703560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776703560" }, { "id": "rs1776703560", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776703560" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3693, "end_pos": 3693, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044566", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3693", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582330583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582330583" }, { "id": "rs1582330583", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582330583" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3695, "end_pos": 3695, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044559", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3695", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776703289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776703289" }, { "id": "rs1776703289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776703289" } ], "glycoeffect": [], "start_pos": 3695, "end_pos": 3695, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044560", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3695", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1256184021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1256184021" }, { "id": "rs1256184021", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1256184021" } ], "glycoeffect": [], "start_pos": 3696, "end_pos": 3696, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044558", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3696", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1308575898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308575898" }, { "id": "rs1308575898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308575898" } ], "glycoeffect": [], "start_pos": 3699, "end_pos": 3699, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044548", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3699", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780411179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780411179" }, { "id": "rs1780411179", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780411179" }, { "id": "rs1780411179", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780411179#frequency_tab" }, { "id": "rs1780411179", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780411179" }, { "id": "rs1780411179", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780411179" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 369, "end_pos": 369, "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096748", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S369", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs779507521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779507521" }, { "id": "rs779507521", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779507521" }, { "id": "rs779507521", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779507521#frequency_tab" }, { "id": "rs779507521", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779507521" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 369, "end_pos": 369, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096747", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S369", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780411179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780411179" }, { "id": "rs1780411179", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780411179" }, { "id": "rs1780411179", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780411179#frequency_tab" }, { "id": "rs1780411179", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780411179" }, { "id": "rs2127291792", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127291792" }, { "id": "rs2127291792", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127291792" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 369, "end_pos": 369, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096748", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S369", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1445990247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445990247" }, { "id": "rs1445990247", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1445990247#frequency_tab" }, { "id": "rs1445990247", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445990247" } ], "glycoeffect": [], "start_pos": 36, "end_pos": 36, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098092", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A36", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1445990247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445990247" }, { "id": "rs1445990247", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1445990247#frequency_tab" }, { "id": "rs1445990247", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1445990247" }, { "id": "rs1445990247", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1445990247" } ], "glycoeffect": [], "start_pos": 36, "end_pos": 36, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098092", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A36", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1776701597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776701597" }, { "id": "rs1776701597", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776701597" } ], "glycoeffect": [], "start_pos": 3701, "end_pos": 3701, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044542", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3701", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs45578032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45578032" }, { "id": "rs45578032", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs45578032" }, { "id": "rs45578032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs45578032" } ], "glycoeffect": [], "start_pos": 3702, "end_pos": 3702, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044540", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3702", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1299459693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299459693" }, { "id": "rs1299459693", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299459693" } ], "glycoeffect": [], "start_pos": 3702, "end_pos": 3702, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044539", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3702", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1386480720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386480720" }, { "id": "rs1386480720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386480720" } ], "glycoeffect": [], "start_pos": 3703, "end_pos": 3703, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044537", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3703", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1300473604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300473604" }, { "id": "rs1300473604", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300473604" } ], "glycoeffect": [], "start_pos": 3706, "end_pos": 3706, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044528", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3706", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1360472147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360472147" }, { "id": "rs1360472147", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1360472147#frequency_tab" }, { "id": "rs1360472147", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360472147" } ], "glycoeffect": [], "start_pos": 3707, "end_pos": 3707, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044525", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3707", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1465438520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465438520" }, { "id": "rs1465438520", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1465438520" } ], "glycoeffect": [], "start_pos": 3708, "end_pos": 3708, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044522", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3708", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1001849030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001849030" }, { "id": "rs1001849030", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1001849030#frequency_tab" }, { "id": "rs1001849030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1001849030" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 370, "end_pos": 370, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096744", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T370", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1001849030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001849030" }, { "id": "rs1001849030", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1001849030#frequency_tab" }, { "id": "rs1001849030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1001849030" }, { "id": "rs1001849030", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1001849030" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 370, "end_pos": 370, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096744", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T370", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1378929567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378929567" }, { "id": "rs1378929567", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378929567" } ], "glycoeffect": [], "start_pos": 3710, "end_pos": 3710, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044516", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3710", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1391186314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391186314" }, { "id": "rs1391186314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391186314" } ], "glycoeffect": [], "start_pos": 3712, "end_pos": 3712, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044509", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3712", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196295697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196295697" }, { "id": "rs1196295697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196295697" } ], "glycoeffect": [], "start_pos": 3712, "end_pos": 3712, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044510", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3712", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1263595067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263595067" }, { "id": "rs1263595067", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263595067" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3714, "end_pos": 3714, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044503", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3714", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1487240854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487240854" }, { "id": "rs1487240854", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1487240854" } ], "glycoeffect": [], "start_pos": 3715, "end_pos": 3715, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044500", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3715", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1402090510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402090510" }, { "id": "rs1402090510", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1402090510" } ], "glycoeffect": [], "start_pos": 3715, "end_pos": 3715, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044501", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3715", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1285237917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1285237917" }, { "id": "rs1285237917", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1285237917" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3717, "end_pos": 3717, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044494", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3717", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1347199944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347199944" }, { "id": "rs1347199944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347199944" } ], "glycoeffect": [], "start_pos": 3719, "end_pos": 3719, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044489", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3719", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1347199944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347199944" }, { "id": "rs1347199944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347199944" } ], "glycoeffect": [], "start_pos": 3719, "end_pos": 3719, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044489", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3719", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463379603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463379603" }, { "id": "rs1463379603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463379603" } ], "glycoeffect": [], "start_pos": 371, "end_pos": 371, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096741", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1187924257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187924257" }, { "id": "rs1187924257", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1187924257" } ], "glycoeffect": [], "start_pos": 3721, "end_pos": 3721, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044482", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3721", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1254389093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1254389093" }, { "id": "rs1254389093", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1254389093" }, { "id": "rs1254389093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1254389093" } ], "glycoeffect": [], "start_pos": 3721, "end_pos": 3721, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044483", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3721", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1327279404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327279404" }, { "id": "rs1327279404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327279404" } ], "glycoeffect": [], "start_pos": 3723, "end_pos": 3723, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044476", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3723", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1432421354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1432421354" }, { "id": "rs1432421354", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1432421354" } ], "glycoeffect": [], "start_pos": 3724, "end_pos": 3724, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044474", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3724", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280432649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280432649" }, { "id": "rs1280432649", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280432649" } ], "glycoeffect": [], "start_pos": 3724, "end_pos": 3724, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044473", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3724", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1340376206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1340376206" }, { "id": "rs1340376206", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1340376206" } ], "glycoeffect": [], "start_pos": 3726, "end_pos": 3726, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044468", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3726", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1416712358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416712358" }, { "id": "rs1416712358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416712358" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3727, "end_pos": 3727, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044465", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3727", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1416712358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416712358" }, { "id": "rs1416712358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416712358" } ], "glycoeffect": [], "start_pos": 3727, "end_pos": 3727, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044465", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3727", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582329963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582329963" }, { "id": "rs1582329963", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582329963" } ], "glycoeffect": [], "start_pos": 3728, "end_pos": 3728, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044461", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3728", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 372, "end_pos": 372, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096738", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T372", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1776691059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776691059" }, { "id": "rs1776691059", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776691059" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3732, "end_pos": 3732, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044449", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3732", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1465198535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465198535" }, { "id": "rs1465198535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465198535" } ], "glycoeffect": [], "start_pos": 3733, "end_pos": 3733, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044446", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3733", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1423926386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423926386" }, { "id": "rs1423926386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423926386" } ], "glycoeffect": [], "start_pos": 3736, "end_pos": 3736, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044437", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3736", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1172480212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172480212" }, { "id": "rs1172480212", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172480212" } ], "glycoeffect": [], "start_pos": 3737, "end_pos": 3737, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044435", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3737", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1476721344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476721344" }, { "id": "rs1476721344", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1476721344" } ], "glycoeffect": [], "start_pos": 3737, "end_pos": 3737, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044434", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3737", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1262277328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262277328" }, { "id": "rs1262277328", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262277328" } ], "glycoeffect": [], "start_pos": 3740, "end_pos": 3740, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044424", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3740", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1254121532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1254121532" }, { "id": "rs1254121532", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1254121532" }, { "id": "rs1254121532", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1254121532" } ], "glycoeffect": [], "start_pos": 3743, "end_pos": 3743, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044417", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3743", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ] }, { "evidence": [ { "id": "rs1318800156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318800156" }, { "id": "rs1318800156", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318800156" } ], "glycoeffect": [], "start_pos": 3749, "end_pos": 3749, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044399", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3749", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755402467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755402467" }, { "id": "rs755402467", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755402467" }, { "id": "rs755402467", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755402467" } ], "glycoeffect": [], "start_pos": 374, "end_pos": 374, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096732", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P374", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 374, "end_pos": 374, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096732", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P374", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1260236466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260236466" }, { "id": "rs1260236466", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260236466" } ], "glycoeffect": [], "start_pos": 3750, "end_pos": 3750, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044396", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3750", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1217101105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1217101105" }, { "id": "rs1217101105", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1217101105" }, { "id": "rs1217101105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1217101105" }, { "id": "rs1217101105", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1217101105" } ], "glycoeffect": [], "start_pos": 3750, "end_pos": 3750, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32044395", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3750", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1317673483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317673483" }, { "id": "rs1317673483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317673483" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3751, "end_pos": 3751, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044392", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3751", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1263358524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263358524" }, { "id": "rs1263358524", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1263358524" } ], "glycoeffect": [], "start_pos": 3754, "end_pos": 3754, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044383", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3754", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1406880161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406880161" }, { "id": "rs1406880161", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406880161" } ], "glycoeffect": [], "start_pos": 3755, "end_pos": 3755, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044129", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3755", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1388387398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388387398" }, { "id": "rs1388387398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388387398" } ], "glycoeffect": [], "start_pos": 3756, "end_pos": 3756, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044127", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3756", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1162570811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1162570811" }, { "id": "rs1162570811", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1162570811" } ], "glycoeffect": [], "start_pos": 3757, "end_pos": 3757, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044124", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3757", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756645662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756645662" }, { "id": "rs756645662", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756645662" }, { "id": "rs756645662", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756645662" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3758, "end_pos": 3758, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044120", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3758", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756645662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756645662" }, { "id": "rs756645662", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756645662" }, { "id": "rs756645662", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756645662" } ], "glycoeffect": [], "start_pos": 3758, "end_pos": 3758, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044120", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3758", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439266524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439266524" }, { "id": "rs1439266524", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439266524" } ], "glycoeffect": [], "start_pos": 3759, "end_pos": 3759, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044118", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3759", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749933982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749933982" }, { "id": "rs749933982", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749933982" }, { "id": "rs749933982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749933982" } ], "glycoeffect": [], "start_pos": 3759, "end_pos": 3759, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044117", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3759", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439266524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439266524" }, { "id": "rs1439266524", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439266524" } ], "glycoeffect": [], "start_pos": 3759, "end_pos": 3759, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044118", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3759", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754216282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754216282" }, { "id": "rs754216282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754216282" }, { "id": "rs754216282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754216282" } ], "glycoeffect": [], "start_pos": 375, "end_pos": 375, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096729", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R375", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 375, "end_pos": 375, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096728", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R375", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs754216282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754216282" } ], "glycoeffect": [], "start_pos": 375, "end_pos": 375, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096729", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R375", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1224155368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224155368" }, { "id": "rs1224155368", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224155368" } ], "glycoeffect": [], "start_pos": 3760, "end_pos": 3760, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044115", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3760", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767061316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767061316" }, { "id": "rs767061316", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767061316" }, { "id": "rs767061316", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767061316" } ], "glycoeffect": [], "start_pos": 3760, "end_pos": 3760, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044114", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3760", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3760, "end_pos": 3760, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32044115", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3760", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs756864717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756864717" }, { "id": "rs756864717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756864717" }, { "id": "rs756864717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756864717" } ], "glycoeffect": [], "start_pos": 3762, "end_pos": 3762, "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044108", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3762", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1289688451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289688451" }, { "id": "rs1289688451", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289688451" } ], "glycoeffect": [], "start_pos": 3768, "end_pos": 3768, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044091", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3768", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751236645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751236645" }, { "id": "rs751236645", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751236645" }, { "id": "rs751236645", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751236645" } ], "glycoeffect": [], "start_pos": 3769, "end_pos": 3769, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044087", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3769", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216614768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216614768" }, { "id": "rs1216614768", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216614768" } ], "glycoeffect": [], "start_pos": 376, "end_pos": 376, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096726", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D376", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780409513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780409513" }, { "id": "rs1780409513", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780409513" } ], "glycoeffect": [], "start_pos": 376, "end_pos": 376, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096727", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D376", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1270503970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270503970" }, { "id": "rs1270503970", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1270503970#frequency_tab" } ], "glycoeffect": [], "start_pos": 3772, "end_pos": 3772, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044078", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3772", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs576272360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576272360" }, { "id": "rs576272360", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs576272360" }, { "id": "rs576272360", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576272360" }, { "id": "rs576272360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs576272360" } ], "glycoeffect": [], "start_pos": 3773, "end_pos": 3773, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044075", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3773", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1438239148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1438239148" }, { "id": "rs1438239148", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1438239148" } ], "glycoeffect": [], "start_pos": 3774, "end_pos": 3774, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044072", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3774", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775218605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775218605" }, { "id": "rs775218605", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775218605" }, { "id": "rs775218605", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775218605" } ], "glycoeffect": [], "start_pos": 3775, "end_pos": 3775, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044070", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3775", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775218605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775218605" }, { "id": "rs775218605", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775218605" }, { "id": "rs775218605", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775218605" } ], "glycoeffect": [], "start_pos": 3775, "end_pos": 3775, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044070", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3775", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1302357668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302357668" }, { "id": "rs1302357668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1302357668" } ], "glycoeffect": [], "start_pos": 3777, "end_pos": 3777, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044064", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3777", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs930155266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs930155266" }, { "id": "rs930155266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs930155266#frequency_tab" } ], "glycoeffect": [], "start_pos": 3778, "end_pos": 3778, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044060", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3778", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs930155266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs930155266" }, { "id": "rs930155266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs930155266#frequency_tab" } ], "glycoeffect": [], "start_pos": 3778, "end_pos": 3778, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044060", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3778", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765212228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765212228" }, { "id": "rs765212228", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765212228" }, { "id": "rs765212228", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765212228" } ], "glycoeffect": [], "start_pos": 3778, "end_pos": 3778, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044061", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3778", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1156868280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156868280" }, { "id": "rs1156868280", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1156868280" } ], "glycoeffect": [], "start_pos": 3779, "end_pos": 3779, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044058", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3779", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 377, "end_pos": 377, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096723", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C377", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs759445043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759445043" }, { "id": "rs759445043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759445043" }, { "id": "rs759445043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759445043" }, { "id": "rs759445043", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759445043" } ], "glycoeffect": [], "start_pos": 3780, "end_pos": 3780, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32044055", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3780", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs759445043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759445043" }, { "id": "rs759445043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759445043" }, { "id": "rs759445043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759445043" } ], "glycoeffect": [], "start_pos": 3780, "end_pos": 3780, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044055", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3780", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542870641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542870641" }, { "id": "rs542870641", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542870641" }, { "id": "rs542870641", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542870641" }, { "id": "rs542870641", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542870641" } ], "glycoeffect": [], "start_pos": 3782, "end_pos": 3782, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044048", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3782", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542870641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542870641" }, { "id": "rs542870641", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542870641" }, { "id": "rs542870641", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542870641" }, { "id": "rs542870641", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542870641" } ], "glycoeffect": [], "start_pos": 3782, "end_pos": 3782, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044048", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3782", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542870641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542870641" }, { "id": "rs542870641", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542870641" }, { "id": "rs542870641", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542870641" }, { "id": "rs542870641", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542870641" } ], "glycoeffect": [], "start_pos": 3782, "end_pos": 3782, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044048", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3782", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773307742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773307742" }, { "id": "rs773307742", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773307742" }, { "id": "rs773307742", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773307742" } ], "glycoeffect": [], "start_pos": 3782, "end_pos": 3782, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044049", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3782", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1246448117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246448117" }, { "id": "rs1246448117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246448117" } ], "glycoeffect": [], "start_pos": 3783, "end_pos": 3783, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044046", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3783", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774724727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774724727" }, { "id": "rs774724727", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774724727" }, { "id": "rs774724727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774724727" } ], "glycoeffect": [], "start_pos": 3783, "end_pos": 3783, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044045", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3783", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749658381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749658381" }, { "id": "rs749658381", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749658381" }, { "id": "rs749658381", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749658381" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3785, "end_pos": 3785, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044040", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3785", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216600968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216600968" }, { "id": "rs1216600968", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1216600968#frequency_tab" }, { "id": "rs1216600968", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216600968" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3785, "end_pos": 3785, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044039", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3785", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1174903251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174903251" }, { "id": "rs1174903251", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1174903251#frequency_tab" }, { "id": "rs1174903251", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1174903251" } ], "glycoeffect": [], "start_pos": 3787, "end_pos": 3787, "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044034", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3787", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs372983350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372983350" }, { "id": "rs372983350", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372983350" }, { "id": "rs372983350", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372983350#frequency_tab" }, { "id": "rs372983350", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372983350" } ], "glycoeffect": [], "start_pos": 378, "end_pos": 378, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096721", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R378", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2127291704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127291704" }, { "id": "rs2127291704", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127291704" } ], "glycoeffect": [], "start_pos": 378, "end_pos": 378, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096720", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R378", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs372983350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372983350" }, { "id": "rs372983350", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372983350" }, { "id": "rs372983350", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372983350#frequency_tab" }, { "id": "rs372983350", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372983350" } ], "glycoeffect": [], "start_pos": 378, "end_pos": 378, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096721", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R378", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746394659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746394659" }, { "id": "rs746394659", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746394659" }, { "id": "rs746394659", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746394659" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3790, "end_pos": 3790, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044024", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3790", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756621012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756621012" }, { "id": "rs756621012", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756621012" }, { "id": "rs756621012", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756621012#frequency_tab" }, { "id": "rs756621012", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756621012" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3790, "end_pos": 3790, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044025", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3790", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756621012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756621012" }, { "id": "rs756621012", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756621012" }, { "id": "rs756621012", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756621012#frequency_tab" }, { "id": "rs756621012", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756621012" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3790, "end_pos": 3790, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044025", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3790", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780632328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780632328" }, { "id": "rs780632328", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780632328" }, { "id": "rs780632328", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780632328" } ], "glycoeffect": [], "start_pos": 3791, "end_pos": 3791, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044020", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3791", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1400402609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400402609" }, { "id": "rs1400402609", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1400402609#frequency_tab" }, { "id": "rs1400402609", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1400402609" } ], "glycoeffect": [], "start_pos": 3793, "end_pos": 3793, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044015", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3793", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751146752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751146752" }, { "id": "rs751146752", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751146752" }, { "id": "rs751146752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751146752" } ], "glycoeffect": [], "start_pos": 3794, "end_pos": 3794, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044011", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3794", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3795, "end_pos": 3795, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32044009", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3795", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1430006747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430006747" }, { "id": "rs1430006747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1430006747" } ], "glycoeffect": [], "start_pos": 3795, "end_pos": 3795, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044010", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3795", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs554107135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554107135" }, { "id": "rs554107135", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554107135" }, { "id": "rs554107135", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554107135" }, { "id": "rs554107135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554107135" } ], "glycoeffect": [], "start_pos": 3796, "end_pos": 3796, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32044007", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3796", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1384044162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384044162" }, { "id": "rs1384044162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384044162" } ], "glycoeffect": [], "start_pos": 3796, "end_pos": 3796, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043892", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3796", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776635597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776635597" }, { "id": "rs1776635597", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776635597" } ], "glycoeffect": [], "start_pos": 3797, "end_pos": 3797, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043890", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3797", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776635336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776635336" }, { "id": "rs1776635336", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776635336" } ], "glycoeffect": [], "start_pos": 3798, "end_pos": 3798, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043887", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3798", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3799, "end_pos": 3799, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043883", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q3799", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1260638825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260638825" }, { "id": "rs1260638825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260638825" } ], "glycoeffect": [], "start_pos": 379, "end_pos": 379, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096718", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G379", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 37, "end_pos": 37, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098089", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P37", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483773092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483773092" } ], "glycoeffect": [], "start_pos": 37, "end_pos": 37, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098090", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P37", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776634824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776634824" }, { "id": "rs1776634824", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776634824#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3800, "end_pos": 3800, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043879", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3800", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs971252129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs971252129" }, { "id": "rs971252129", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs971252129#frequency_tab" }, { "id": "rs971252129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs971252129" } ], "glycoeffect": [], "start_pos": 3800, "end_pos": 3800, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043880", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3800", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1456924047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1456924047" }, { "id": "rs1456924047", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1456924047#frequency_tab" } ], "glycoeffect": [], "start_pos": 3802, "end_pos": 3802, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043873", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3802", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776634059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776634059" }, { "id": "rs1776634059", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776634059" } ], "glycoeffect": [], "start_pos": 3803, "end_pos": 3803, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043872", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3803", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2894232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2894232" }, { "id": "rs2894232", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2894232" }, { "id": "rs2894232", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2894232" }, { "id": "rs2894232", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2894232#frequency_tab" }, { "id": "rs2894232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2894232" } ], "glycoeffect": [], "start_pos": 3804, "end_pos": 3804, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043867", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3804", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776632699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776632699" }, { "id": "rs1776632699", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776632699#frequency_tab" } ], "glycoeffect": [], "start_pos": 3805, "end_pos": 3805, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043865", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3805", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776632949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776632949" }, { "id": "rs1776632949", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776632949#frequency_tab" } ], "glycoeffect": [], "start_pos": 3805, "end_pos": 3805, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043866", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3805", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3806, "end_pos": 3806, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043861", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q3806", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2395085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2395085" }, { "id": "rs2395085", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2395085" }, { "id": "rs2395085", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2395085" }, { "id": "rs2395085", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2395085#frequency_tab" }, { "id": "rs2395085", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2395085" } ], "glycoeffect": [], "start_pos": 3806, "end_pos": 3806, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043862", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0060832", "site_lbl": "Q3806", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2395085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2395085" }, { "id": "rs2395085", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2395085" }, { "id": "rs2395085", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2395085" }, { "id": "rs2395085", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2395085#frequency_tab" }, { "id": "rs2395085", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2395085" } ], "glycoeffect": [], "start_pos": 3806, "end_pos": 3806, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043862", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0060832", "site_lbl": "Q3806", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3807, "end_pos": 3807, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043859", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "A3807", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs776953580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776953580" }, { "id": "rs776953580", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776953580" }, { "id": "rs776953580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776953580" } ], "glycoeffect": [], "start_pos": 3807, "end_pos": 3807, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043860", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3807", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776953580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776953580" }, { "id": "rs776953580", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776953580" }, { "id": "rs776953580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776953580" } ], "glycoeffect": [], "start_pos": 3807, "end_pos": 3807, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043860", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3807", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776953580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776953580" }, { "id": "rs776953580", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776953580" }, { "id": "rs776953580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776953580" } ], "glycoeffect": [], "start_pos": 3807, "end_pos": 3807, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043860", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3807", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149197999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149197999" }, { "id": "rs149197999", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149197999" }, { "id": "rs149197999", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149197999" }, { "id": "rs149197999", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149197999#frequency_tab" }, { "id": "rs149197999", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149197999" } ], "glycoeffect": [], "start_pos": 3808, "end_pos": 3808, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043857", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R3808", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs376486710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376486710" }, { "id": "rs376486710", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376486710" }, { "id": "rs376486710", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376486710#frequency_tab" }, { "id": "rs376486710", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376486710" }, { "id": "rs376486710", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376486710" } ], "glycoeffect": [], "start_pos": 3808, "end_pos": 3808, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043856", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3808", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs149197999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149197999" }, { "id": "rs149197999", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149197999" }, { "id": "rs149197999", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149197999" }, { "id": "rs149197999", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149197999#frequency_tab" }, { "id": "rs149197999", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149197999" } ], "glycoeffect": [], "start_pos": 3808, "end_pos": 3808, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043857", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R3808", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483761068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483761068" } ], "glycoeffect": [], "start_pos": 380, "end_pos": 380, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096715", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R380", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776630151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776630151" }, { "id": "rs1776630151", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776630151" } ], "glycoeffect": [], "start_pos": 3810, "end_pos": 3810, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043851", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3810", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562774431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562774431" }, { "id": "rs1562774431", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562774431" } ], "glycoeffect": [], "start_pos": 3811, "end_pos": 3811, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043848", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3811", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776629638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776629638" }, { "id": "rs1776629638", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776629638" } ], "glycoeffect": [], "start_pos": 3812, "end_pos": 3812, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043844", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3812", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765702815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765702815" }, { "id": "rs765702815", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765702815#frequency_tab" } ], "glycoeffect": [], "start_pos": 3813, "end_pos": 3813, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043841", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3813", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1350315301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350315301" }, { "id": "rs1350315301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350315301" } ], "glycoeffect": [], "start_pos": 3814, "end_pos": 3814, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043839", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3814", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776627991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776627991" }, { "id": "rs1776627991", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776627991" } ], "glycoeffect": [], "start_pos": 3815, "end_pos": 3815, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043835", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3815", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs550355338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550355338" }, { "id": "rs550355338", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550355338" }, { "id": "rs550355338", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550355338" }, { "id": "rs550355338", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550355338#frequency_tab" }, { "id": "rs550355338", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550355338" }, { "id": "rs550355338", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550355338" } ], "glycoeffect": [], "start_pos": 3816, "end_pos": 3816, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043832", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I3816", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs768169058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768169058" }, { "id": "rs768169058", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768169058" }, { "id": "rs768169058", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768169058" } ], "glycoeffect": [], "start_pos": 3817, "end_pos": 3817, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043829", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3817", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3817, "end_pos": 3817, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043830", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3817", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2151883258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151883258" }, { "id": "rs2151883258", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151883258" } ], "glycoeffect": [], "start_pos": 3818, "end_pos": 3818, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043827", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3818", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs142610250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142610250" }, { "id": "rs142610250", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142610250" }, { "id": "rs142610250", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142610250#frequency_tab" }, { "id": "rs142610250", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142610250" }, { "id": "rs142610250", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142610250" } ], "glycoeffect": [], "start_pos": 3819, "end_pos": 3819, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043824", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3819", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs745733950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745733950" }, { "id": "rs745733950", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745733950" }, { "id": "rs745733950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745733950#frequency_tab" }, { "id": "rs745733950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745733950" }, { "id": "rs745733950", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs745733950" } ], "glycoeffect": [], "start_pos": 3819, "end_pos": 3819, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043823", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A3819", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1302307702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302307702" }, { "id": "rs1302307702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1302307702" } ], "glycoeffect": [], "start_pos": 381, "end_pos": 381, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096711", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1314277972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314277972" }, { "id": "rs1314277972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1314277972" } ], "glycoeffect": [], "start_pos": 381, "end_pos": 381, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096712", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs138558351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138558351" }, { "id": "rs138558351", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138558351" }, { "id": "rs138558351", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138558351#frequency_tab" }, { "id": "rs138558351", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138558351" }, { "id": "rs138558351", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138558351" } ], "glycoeffect": [], "start_pos": 3820, "end_pos": 3820, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043821", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3820", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs138558351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138558351" }, { "id": "rs138558351", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138558351" }, { "id": "rs138558351", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138558351#frequency_tab" }, { "id": "rs138558351", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138558351" } ], "glycoeffect": [], "start_pos": 3820, "end_pos": 3820, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043821", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3820", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs765400545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765400545" }, { "id": "rs765400545", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765400545" }, { "id": "rs765400545", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765400545#frequency_tab" }, { "id": "rs765400545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765400545" }, { "id": "rs765400545", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765400545" } ], "glycoeffect": [], "start_pos": 3820, "end_pos": 3820, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043820", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3820", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs765400545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765400545" }, { "id": "rs765400545", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765400545" }, { "id": "rs765400545", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765400545#frequency_tab" }, { "id": "rs765400545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765400545" } ], "glycoeffect": [], "start_pos": 3820, "end_pos": 3820, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043820", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3820", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs765400545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765400545" }, { "id": "rs765400545", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765400545" }, { "id": "rs765400545", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765400545#frequency_tab" }, { "id": "rs765400545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765400545" }, { "id": "rs765400545", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765400545" } ], "glycoeffect": [], "start_pos": 3820, "end_pos": 3820, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043820", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R3820", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs754085722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754085722" }, { "id": "rs754085722", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754085722" }, { "id": "rs754085722", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754085722#frequency_tab" }, { "id": "rs754085722", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754085722" }, { "id": "rs754085722", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754085722" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3821, "end_pos": 3821, "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043817", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3821", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs754085722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754085722" }, { "id": "rs754085722", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754085722" }, { "id": "rs754085722", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754085722#frequency_tab" }, { "id": "rs754085722", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754085722" } ], "glycoeffect": [], "start_pos": 3821, "end_pos": 3821, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043817", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3821", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761027837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761027837" }, { "id": "rs761027837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761027837" }, { "id": "rs761027837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761027837" } ], "glycoeffect": [], "start_pos": 3823, "end_pos": 3823, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043812", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3823", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1433447554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1433447554" }, { "id": "rs1433447554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1433447554" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3824, "end_pos": 3824, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043808", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3824", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773691198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773691198" }, { "id": "rs773691198", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773691198" }, { "id": "rs773691198", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773691198" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3824, "end_pos": 3824, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043809", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3824", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762430096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762430096" }, { "id": "rs762430096", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762430096" }, { "id": "rs762430096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762430096" } ], "glycoeffect": [], "start_pos": 3825, "end_pos": 3825, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043805", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3825", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs550641852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550641852" }, { "id": "rs550641852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550641852#frequency_tab" }, { "id": "rs550641852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550641852" } ], "glycoeffect": [], "start_pos": 3825, "end_pos": 3825, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043806", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3825", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs550641852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550641852" }, { "id": "rs550641852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550641852#frequency_tab" }, { "id": "rs550641852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550641852" }, { "id": "rs550641852", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550641852" } ], "glycoeffect": [], "start_pos": 3825, "end_pos": 3825, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043806", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3825", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1776622891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776622891" }, { "id": "rs1776622891", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776622891#frequency_tab" } ], "glycoeffect": [], "start_pos": 3826, "end_pos": 3826, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043802", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3826", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3826, "end_pos": 3826, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043803", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3826", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1008389232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1008389232" }, { "id": "rs1008389232", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1008389232#frequency_tab" }, { "id": "rs1008389232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1008389232" }, { "id": "rs1008389232", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1008389232" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3827, "end_pos": 3827, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043799", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3827", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1008389232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1008389232" }, { "id": "rs1008389232", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1008389232#frequency_tab" }, { "id": "rs1008389232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1008389232" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3827, "end_pos": 3827, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043799", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3827", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1318047236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318047236" }, { "id": "rs1318047236", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1318047236#frequency_tab" }, { "id": "rs1318047236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318047236" }, { "id": "rs1318047236", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1318047236" } ], "glycoeffect": [], "start_pos": 3829, "end_pos": 3829, "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043794", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3829", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1318047236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318047236" }, { "id": "rs1318047236", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1318047236#frequency_tab" }, { "id": "rs1318047236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318047236" } ], "glycoeffect": [], "start_pos": 3829, "end_pos": 3829, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043794", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3829", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs889575324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs889575324" }, { "id": "rs889575324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs889575324#frequency_tab" }, { "id": "rs889575324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs889575324" }, { "id": "rs889575324", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs889575324" } ], "glycoeffect": [], "start_pos": 3829, "end_pos": 3829, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043793", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3829", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 382, "end_pos": 382, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096709", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R382", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2483760983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483760983" } ], "glycoeffect": [], "start_pos": 382, "end_pos": 382, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096708", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R382", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs1056428594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1056428594" }, { "id": "rs1056428594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1056428594#frequency_tab" } ], "glycoeffect": [], "start_pos": 382, "end_pos": 382, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096709", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R382", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768313092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768313092" }, { "id": "rs768313092", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768313092" }, { "id": "rs768313092", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768313092" } ], "glycoeffect": [], "start_pos": 3830, "end_pos": 3830, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043791", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3830", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1234200545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1234200545" }, { "id": "rs1234200545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1234200545" } ], "glycoeffect": [], "start_pos": 3831, "end_pos": 3831, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043786", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3831", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748899355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748899355" }, { "id": "rs748899355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748899355" }, { "id": "rs748899355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748899355" } ], "glycoeffect": [], "start_pos": 3832, "end_pos": 3832, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043785", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3832", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776620590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776620590" }, { "id": "rs1776620590", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776620590#frequency_tab" } ], "glycoeffect": [], "start_pos": 3833, "end_pos": 3833, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043782", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3833", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1476063402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476063402" }, { "id": "rs1476063402", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1476063402#frequency_tab" }, { "id": "rs1476063402", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1476063402" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3834, "end_pos": 3834, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043779", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3834", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1404724187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404724187" }, { "id": "rs1404724187", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1404724187#frequency_tab" }, { "id": "rs1404724187", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1404724187" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3834, "end_pos": 3834, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043777", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3834", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769637706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769637706" }, { "id": "rs769637706", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769637706" }, { "id": "rs769637706", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769637706#frequency_tab" }, { "id": "rs769637706", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769637706" } ], "glycoeffect": [], "start_pos": 3835, "end_pos": 3835, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043776", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3835", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769637706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769637706" }, { "id": "rs769637706", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769637706" }, { "id": "rs769637706", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769637706#frequency_tab" }, { "id": "rs769637706", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769637706" } ], "glycoeffect": [], "start_pos": 3835, "end_pos": 3835, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043776", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3835", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745646197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745646197" }, { "id": "rs745646197", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745646197" }, { "id": "rs745646197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745646197" } ], "glycoeffect": [], "start_pos": 3837, "end_pos": 3837, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043770", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3837", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781091679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781091679" }, { "id": "rs781091679", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781091679" }, { "id": "rs781091679", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781091679#frequency_tab" }, { "id": "rs781091679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781091679" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3838, "end_pos": 3838, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043767", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3838", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs368428784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368428784" }, { "id": "rs368428784", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368428784#frequency_tab" }, { "id": "rs368428784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368428784" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3838, "end_pos": 3838, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043766", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T3838", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs781091679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781091679" }, { "id": "rs781091679", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781091679" }, { "id": "rs781091679", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781091679#frequency_tab" }, { "id": "rs781091679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781091679" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3838, "end_pos": 3838, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043767", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3838", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368428784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368428784" }, { "id": "rs368428784", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368428784#frequency_tab" }, { "id": "rs368428784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368428784" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3838, "end_pos": 3838, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043766", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3838", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs561108689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561108689" }, { "id": "rs561108689", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561108689" }, { "id": "rs561108689", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561108689" }, { "id": "rs561108689", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561108689" } ], "glycoeffect": [], "start_pos": 3839, "end_pos": 3839, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043764", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G3839", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs561108689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561108689" }, { "id": "rs561108689", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561108689" }, { "id": "rs561108689", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561108689" }, { "id": "rs561108689", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561108689" } ], "glycoeffect": [], "start_pos": 3839, "end_pos": 3839, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043764", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G3839", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs947084202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs947084202" }, { "id": "rs947084202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs947084202#frequency_tab" }, { "id": "rs947084202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs947084202" } ], "glycoeffect": [], "start_pos": 3839, "end_pos": 3839, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043763", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3839", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs56139761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs56139761" }, { "id": "rs56139761", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs56139761" } ], "glycoeffect": [], "start_pos": 383, "end_pos": 383, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096706", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C383", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747001277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747001277" }, { "id": "rs747001277", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747001277" }, { "id": "rs747001277", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747001277#frequency_tab" }, { "id": "rs747001277", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747001277" } ], "glycoeffect": [], "start_pos": 3840, "end_pos": 3840, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043759", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3840", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778814478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778814478" }, { "id": "rs778814478", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778814478" }, { "id": "rs778814478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778814478" } ], "glycoeffect": [], "start_pos": 3841, "end_pos": 3841, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043758", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3841", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776616885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776616885" }, { "id": "rs1776616885", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776616885" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3842, "end_pos": 3842, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043754", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3842", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1479987574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479987574" }, { "id": "rs1479987574", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1479987574#frequency_tab" }, { "id": "rs1479987574", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479987574" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3843, "end_pos": 3843, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043752", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3843", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755060174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755060174" }, { "id": "rs755060174", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755060174" }, { "id": "rs755060174", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755060174#frequency_tab" }, { "id": "rs755060174", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755060174" }, { "id": "rs755060174", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755060174" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3843, "end_pos": 3843, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3843", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1479987574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479987574" }, { "id": "rs1479987574", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1479987574#frequency_tab" }, { "id": "rs1479987574", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479987574" } ], "glycoeffect": [], "start_pos": 3843, "end_pos": 3843, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043752", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3843", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3844, "end_pos": 3844, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043556", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V3844", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs780247922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780247922" }, { "id": "rs780247922", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780247922" }, { "id": "rs780247922", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780247922" } ], "glycoeffect": [], "start_pos": 3844, "end_pos": 3844, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043749", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3844", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776594124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776594124" }, { "id": "rs1776594124", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776594124" } ], "glycoeffect": [], "start_pos": 3845, "end_pos": 3845, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043554", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3845", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773045601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773045601" }, { "id": "rs773045601", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773045601" }, { "id": "rs773045601", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773045601" } ], "glycoeffect": [], "start_pos": 3846, "end_pos": 3846, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043549", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3846", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199688928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199688928" }, { "id": "rs199688928", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199688928" }, { "id": "rs199688928", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199688928" }, { "id": "rs199688928", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199688928#frequency_tab" }, { "id": "rs199688928", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199688928" } ], "glycoeffect": [], "start_pos": 3847, "end_pos": 3847, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043548", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3847", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199688928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199688928" }, { "id": "rs199688928", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199688928" }, { "id": "rs199688928", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199688928" }, { "id": "rs199688928", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199688928#frequency_tab" }, { "id": "rs199688928", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199688928" } ], "glycoeffect": [], "start_pos": 3847, "end_pos": 3847, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043548", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3847", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780407173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780407173" }, { "id": "rs1780407173", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780407173#frequency_tab" }, { "id": "rs1780407173", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780407173" } ], "glycoeffect": [], "start_pos": 384, "end_pos": 384, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096703", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E384", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776591636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776591636" }, { "id": "rs1776591636", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776591636" } ], "glycoeffect": [], "start_pos": 3850, "end_pos": 3850, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043537", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3850", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs4713498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4713498" }, { "id": "rs4713498", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs4713498" }, { "id": "rs4713498", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4713498" }, { "id": "rs4713498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs4713498" }, { "id": "rs4713498", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs4713498" }, { "id": "rs1562773221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562773221" }, { "id": "rs1562773221", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562773221" } ], "glycoeffect": [], "start_pos": 3850, "end_pos": 3850, "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043539", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3850", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs746018867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746018867" }, { "id": "rs746018867", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746018867" } ], "glycoeffect": [], "start_pos": 3851, "end_pos": 3851, "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043535", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3851", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781473152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781473152" }, { "id": "rs781473152", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781473152" }, { "id": "rs781473152", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781473152" } ], "glycoeffect": [], "start_pos": 3852, "end_pos": 3852, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043533", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3852", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781473152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781473152" }, { "id": "rs781473152", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781473152" }, { "id": "rs781473152", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781473152" } ], "glycoeffect": [], "start_pos": 3852, "end_pos": 3852, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043533", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3852", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747379232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747379232" }, { "id": "rs747379232", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747379232" }, { "id": "rs747379232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747379232" }, { "id": "rs747379232", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747379232" } ], "glycoeffect": [], "start_pos": 3852, "end_pos": 3852, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043532", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3852", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs747379232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747379232" }, { "id": "rs747379232", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747379232" }, { "id": "rs747379232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747379232" } ], "glycoeffect": [], "start_pos": 3852, "end_pos": 3852, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043532", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3852", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs758936240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758936240" }, { "id": "rs758936240", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758936240" }, { "id": "rs758936240", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758936240" }, { "id": "rs758936240", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758936240" } ], "glycoeffect": [], "start_pos": 3858, "end_pos": 3858, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043515", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3858", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs753281947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753281947" }, { "id": "rs753281947", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753281947" }, { "id": "rs753281947", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753281947" } ], "glycoeffect": [], "start_pos": 3859, "end_pos": 3859, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043511", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3859", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780406984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780406984" }, { "id": "rs1780406984", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780406984" } ], "glycoeffect": [], "start_pos": 385, "end_pos": 385, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096700", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D385", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1462345615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462345615" }, { "id": "rs1462345615", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1462345615" }, { "id": "rs754525196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754525196" }, { "id": "rs754525196", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754525196" }, { "id": "rs754525196", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754525196" } ], "glycoeffect": [], "start_pos": 3860, "end_pos": 3860, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043509", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F3860", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs201121030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201121030" }, { "id": "rs201121030", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201121030" }, { "id": "rs201121030", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201121030" }, { "id": "rs201121030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201121030" } ], "glycoeffect": [], "start_pos": 3861, "end_pos": 3861, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043506", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3861", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760291393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760291393" }, { "id": "rs760291393", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760291393" }, { "id": "rs760291393", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760291393" }, { "id": "rs760291393", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760291393" } ], "glycoeffect": [], "start_pos": 3862, "end_pos": 3862, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043503", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3862", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1310198177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310198177" }, { "id": "rs1310198177", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1310198177#frequency_tab" } ], "glycoeffect": [], "start_pos": 3863, "end_pos": 3863, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043499", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3863", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212523113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212523113" }, { "id": "rs1212523113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212523113" } ], "glycoeffect": [], "start_pos": 3864, "end_pos": 3864, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043495", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3864", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776585994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776585994" }, { "id": "rs1776585994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776585994#frequency_tab" } ], "glycoeffect": [], "start_pos": 3866, "end_pos": 3866, "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043490", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3866", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382315184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382315184" }, { "id": "rs1382315184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382315184" } ], "glycoeffect": [], "start_pos": 3867, "end_pos": 3867, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043487", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3867", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776585730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776585730" }, { "id": "rs1776585730", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776585730" } ], "glycoeffect": [], "start_pos": 3867, "end_pos": 3867, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043488", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3867", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 3868, "end_pos": 3868, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32043484", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3868", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1157027322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157027322" }, { "id": "rs1157027322", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157027322" } ], "glycoeffect": [], "start_pos": 3869, "end_pos": 3869, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043482", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3869", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469857970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469857970" }, { "id": "rs1469857970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469857970" } ], "glycoeffect": [], "start_pos": 3869, "end_pos": 3869, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043480", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3869", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1157027322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157027322" }, { "id": "rs1157027322", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157027322" } ], "glycoeffect": [], "start_pos": 3869, "end_pos": 3869, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043482", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3869", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1203760491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1203760491" }, { "id": "rs1203760491", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1203760491" } ], "glycoeffect": [], "start_pos": 3869, "end_pos": 3869, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043481", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3869", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757223955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757223955" }, { "id": "rs757223955", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757223955" }, { "id": "rs757223955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757223955" } ], "glycoeffect": [], "start_pos": 386, "end_pos": 386, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096697", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G386", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772957662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772957662" }, { "id": "rs772957662", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772957662" }, { "id": "rs772957662", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772957662" } ], "glycoeffect": [], "start_pos": 3870, "end_pos": 3870, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043477", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3870", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776583240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776583240" }, { "id": "rs1776583240", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776583240" } ], "glycoeffect": [], "start_pos": 3871, "end_pos": 3871, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043476", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3871", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776582689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776582689" }, { "id": "rs1776582689", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776582689" } ], "glycoeffect": [], "start_pos": 3872, "end_pos": 3872, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043472", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3872", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776582953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776582953" }, { "id": "rs1776582953", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776582953" } ], "glycoeffect": [], "start_pos": 3872, "end_pos": 3872, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043473", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3872", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151882425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151882425" }, { "id": "rs2151882425", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151882425" } ], "glycoeffect": [], "start_pos": 3873, "end_pos": 3873, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043470", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3873", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761688118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761688118" }, { "id": "rs761688118", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761688118" }, { "id": "rs761688118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761688118" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3874, "end_pos": 3874, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043467", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3874", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213435499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213435499" }, { "id": "rs1213435499", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213435499#frequency_tab" }, { "id": "rs1213435499", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213435499" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3874, "end_pos": 3874, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043466", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3874", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761688118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761688118" }, { "id": "rs761688118", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761688118" }, { "id": "rs761688118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761688118" } ], "glycoeffect": [], "start_pos": 3874, "end_pos": 3874, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043467", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3874", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1218055979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218055979" }, { "id": "rs1218055979", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218055979" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3875, "end_pos": 3875, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043463", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3875", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2856453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2856453" }, { "id": "rs2856453", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2856453" }, { "id": "rs2856453", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2856453" }, { "id": "rs2856453", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2856453#frequency_tab" }, { "id": "rs2856453", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2856453" } ], "glycoeffect": [], "start_pos": 3877, "end_pos": 3877, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043458", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3877", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2856453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2856453" }, { "id": "rs2856453", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2856453" }, { "id": "rs2856453", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2856453" }, { "id": "rs2856453", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2856453#frequency_tab" }, { "id": "rs2856453", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2856453" }, { "id": "rs2856453", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2856453" } ], "glycoeffect": [], "start_pos": 3877, "end_pos": 3877, "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043458", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3877", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1776579156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776579156" }, { "id": "rs1776579156", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776579156#frequency_tab" } ], "glycoeffect": [], "start_pos": 3878, "end_pos": 3878, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043454", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3878", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1400674249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400674249" }, { "id": "rs1400674249", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1400674249" }, { "id": "rs1400674249", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1400674249" } ], "glycoeffect": [], "start_pos": 387, "end_pos": 387, "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096694", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E387", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1400674249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400674249" }, { "id": "rs1400674249", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1400674249" } ], "glycoeffect": [], "start_pos": 387, "end_pos": 387, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096694", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E387", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745948111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745948111" }, { "id": "rs745948111", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs745948111" }, { "id": "rs745948111", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745948111" }, { "id": "rs745948111", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745948111#frequency_tab" }, { "id": "rs745948111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745948111" } ], "glycoeffect": [], "start_pos": 3881, "end_pos": 3881, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043445", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3881", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745948111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745948111" }, { "id": "rs745948111", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs745948111" }, { "id": "rs745948111", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745948111" }, { "id": "rs745948111", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745948111#frequency_tab" }, { "id": "rs745948111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745948111" } ], "glycoeffect": [], "start_pos": 3881, "end_pos": 3881, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043445", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3881", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776577679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776577679" }, { "id": "rs1776577679", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776577679" } ], "glycoeffect": [], "start_pos": 3883, "end_pos": 3883, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043440", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3883", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213051133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213051133" }, { "id": "rs1213051133", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213051133" } ], "glycoeffect": [], "start_pos": 3885, "end_pos": 3885, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043315", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3885", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562772565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562772565" }, { "id": "rs1562772565", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562772565" } ], "glycoeffect": [], "start_pos": 3885, "end_pos": 3885, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043316", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3885", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776566397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776566397" }, { "id": "rs1776566397", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776566397" } ], "glycoeffect": [], "start_pos": 3886, "end_pos": 3886, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043313", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3886", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582324151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582324151" }, { "id": "rs1582324151", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582324151" } ], "glycoeffect": [], "start_pos": 3889, "end_pos": 3889, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043303", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3889", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1307690516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307690516" }, { "id": "rs1307690516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1307690516#frequency_tab" } ], "glycoeffect": [], "start_pos": 388, "end_pos": 388, "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096691", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C388", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1307690516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307690516" }, { "id": "rs1307690516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1307690516#frequency_tab" } ], "glycoeffect": [], "start_pos": 388, "end_pos": 388, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096691", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C388", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1321124391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321124391" }, { "id": "rs1321124391", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321124391" } ], "glycoeffect": [], "start_pos": 3892, "end_pos": 3892, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043295", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3892", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364022484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364022484" }, { "id": "rs1364022484", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364022484" } ], "glycoeffect": [], "start_pos": 3895, "end_pos": 3895, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043286", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3895", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1287137094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1287137094" }, { "id": "rs1287137094", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1287137094" } ], "glycoeffect": [], "start_pos": 3895, "end_pos": 3895, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043285", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3895", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1359887602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359887602" }, { "id": "rs1359887602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359887602" } ], "glycoeffect": [], "start_pos": 3896, "end_pos": 3896, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043283", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3896", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1359887602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359887602" }, { "id": "rs1359887602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359887602" } ], "glycoeffect": [], "start_pos": 3896, "end_pos": 3896, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043283", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3896", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776563022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776563022" }, { "id": "rs1776563022", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776563022" } ], "glycoeffect": [], "start_pos": 3899, "end_pos": 3899, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043274", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3899", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867620707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867620707" }, { "id": "rs867620707", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867620707" } ], "glycoeffect": [], "start_pos": 389, "end_pos": 389, "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096688", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I389", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867620707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867620707" }, { "id": "rs867620707", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867620707" } ], "glycoeffect": [], "start_pos": 389, "end_pos": 389, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096688", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I389", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149502087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149502087" }, { "id": "rs149502087", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149502087" }, { "id": "rs149502087", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149502087" }, { "id": "rs149502087", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149502087#frequency_tab" }, { "id": "rs149502087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149502087" } ], "glycoeffect": [], "start_pos": 38, "end_pos": 38, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098086", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R38", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149502087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149502087" }, { "id": "rs149502087", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149502087" }, { "id": "rs149502087", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149502087" }, { "id": "rs149502087", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149502087#frequency_tab" }, { "id": "rs149502087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149502087" } ], "glycoeffect": [], "start_pos": 38, "end_pos": 38, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098086", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R38", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149502087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149502087" }, { "id": "rs149502087", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149502087" }, { "id": "rs149502087", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149502087" }, { "id": "rs149502087", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149502087#frequency_tab" }, { "id": "rs149502087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149502087" }, { "id": "rs149502087", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149502087" } ], "glycoeffect": [], "start_pos": 38, "end_pos": 38, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098086", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R38", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs760408528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760408528" }, { "id": "rs760408528", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760408528" }, { "id": "rs760408528", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760408528#frequency_tab" }, { "id": "rs760408528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760408528" } ], "glycoeffect": [], "start_pos": 38, "end_pos": 38, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098087", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R38", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776562315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776562315" }, { "id": "rs1776562315", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776562315" } ], "glycoeffect": [], "start_pos": 3901, "end_pos": 3901, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043267", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3901", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs940495155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940495155" }, { "id": "rs940495155", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs940495155" } ], "glycoeffect": [], "start_pos": 390, "end_pos": 390, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096684", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C390", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1467433274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467433274" }, { "id": "rs1467433274", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1467433274#frequency_tab" }, { "id": "rs1467433274", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467433274" } ], "glycoeffect": [], "start_pos": 390, "end_pos": 390, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096683", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C390", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1430753174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430753174" }, { "id": "rs1430753174", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1430753174" } ], "glycoeffect": [], "start_pos": 3911, "end_pos": 3911, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043237", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3911", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1171852463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171852463" }, { "id": "rs1171852463", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171852463" } ], "glycoeffect": [], "start_pos": 3911, "end_pos": 3911, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043238", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3911", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1430753174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430753174" }, { "id": "rs1430753174", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1430753174" } ], "glycoeffect": [], "start_pos": 3911, "end_pos": 3911, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043237", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3911", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776560757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776560757" }, { "id": "rs1776560757", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776560757" } ], "glycoeffect": [], "start_pos": 3913, "end_pos": 3913, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043232", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3913", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1417996502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1417996502" }, { "id": "rs1417996502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1417996502" } ], "glycoeffect": [], "start_pos": 3914, "end_pos": 3914, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043228", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3914", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1474785905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474785905" }, { "id": "rs1474785905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1474785905" } ], "glycoeffect": [], "start_pos": 3917, "end_pos": 3917, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043219", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3917", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1186512117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186512117" }, { "id": "rs1186512117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186512117" }, { "id": "rs1186512117", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1186512117" } ], "glycoeffect": [], "start_pos": 3917, "end_pos": 3917, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043220", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3917", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs752635548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752635548" }, { "id": "rs752635548", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752635548" }, { "id": "rs752635548", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752635548" } ], "glycoeffect": [], "start_pos": 391, "end_pos": 391, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096682", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D391", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752635548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752635548" }, { "id": "rs752635548", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752635548" }, { "id": "rs752635548", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752635548" } ], "glycoeffect": [], "start_pos": 391, "end_pos": 391, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096682", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D391", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1237599619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237599619" }, { "id": "rs1237599619", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1237599619" } ], "glycoeffect": [], "start_pos": 3929, "end_pos": 3929, "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043183", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3929", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1204147833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204147833" }, { "id": "rs1204147833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1204147833" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 392, "end_pos": 392, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096678", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T392", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1204147833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204147833" }, { "id": "rs1204147833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1204147833" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 392, "end_pos": 392, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096678", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T392", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1204147833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204147833" }, { "id": "rs1204147833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1204147833" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 392, "end_pos": 392, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096678", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T392", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382326555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382326555" }, { "id": "rs1382326555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382326555" } ], "glycoeffect": [], "start_pos": 3935, "end_pos": 3935, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043073", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3935", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463847132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463847132" }, { "id": "rs1463847132", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463847132" } ], "glycoeffect": [], "start_pos": 3937, "end_pos": 3937, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043066", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3937", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1353179897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1353179897" }, { "id": "rs1353179897", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1353179897" } ], "glycoeffect": [], "start_pos": 3942, "end_pos": 3942, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043052", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3942", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1170333943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170333943" }, { "id": "rs1170333943", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170333943" } ], "glycoeffect": [], "start_pos": 3944, "end_pos": 3944, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043045", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3944", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1406502386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406502386" }, { "id": "rs1406502386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406502386" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3945, "end_pos": 3945, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043042", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3945", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184925159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184925159" }, { "id": "rs1184925159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184925159#frequency_tab" }, { "id": "rs1184925159", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184925159" } ], "glycoeffect": [], "start_pos": 3947, "end_pos": 3947, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043037", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3947", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562772029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562772029" }, { "id": "rs1562772029", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562772029" } ], "glycoeffect": [], "start_pos": 3947, "end_pos": 3947, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043036", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3947", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1242154182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1242154182" }, { "id": "rs1242154182", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1242154182" } ], "glycoeffect": [], "start_pos": 3949, "end_pos": 3949, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043031", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3949", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1479253700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479253700" }, { "id": "rs1479253700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479253700" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 394, "end_pos": 394, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096673", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y394", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1481486672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1481486672" }, { "id": "rs1481486672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1481486672" } ], "glycoeffect": [], "start_pos": 3953, "end_pos": 3953, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043017", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3953", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776552667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776552667" }, { "id": "rs1776552667", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776552667" } ], "glycoeffect": [], "start_pos": 3956, "end_pos": 3956, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043010", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3956", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776552379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776552379" }, { "id": "rs1776552379", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776552379" } ], "glycoeffect": [], "start_pos": 3957, "end_pos": 3957, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043006", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3957", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1322276529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322276529" }, { "id": "rs1322276529", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322276529" } ], "glycoeffect": [], "start_pos": 3958, "end_pos": 3958, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043004", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3958", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1243877846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243877846" }, { "id": "rs1243877846", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243877846" } ], "glycoeffect": [], "start_pos": 3959, "end_pos": 3959, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043000", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3959", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1293964176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293964176" }, { "id": "rs1293964176", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293964176" } ], "glycoeffect": [], "start_pos": 3959, "end_pos": 3959, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32043001", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3959", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776386674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776386674" }, { "id": "rs776386674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776386674" }, { "id": "rs776386674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776386674" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 395, "end_pos": 395, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096668", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1371594428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371594428" }, { "id": "rs1371594428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371594428" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3969, "end_pos": 3969, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042971", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3969", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1193827092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193827092" }, { "id": "rs1193827092", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1193827092#frequency_tab" }, { "id": "rs1193827092", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193827092" } ], "glycoeffect": [], "start_pos": 396, "end_pos": 396, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096667", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G396", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1297998227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297998227" }, { "id": "rs1297998227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297998227" } ], "glycoeffect": [], "start_pos": 3970, "end_pos": 3970, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042968", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3970", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776549854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776549854" }, { "id": "rs1776549854", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776549854" } ], "glycoeffect": [], "start_pos": 3970, "end_pos": 3970, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042967", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3970", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776549538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776549538" }, { "id": "rs1776549538", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776549538" } ], "glycoeffect": [], "start_pos": 3972, "end_pos": 3972, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042962", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3972", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151881863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151881863" }, { "id": "rs2151881863", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151881863" } ], "glycoeffect": [], "start_pos": 3973, "end_pos": 3973, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042958", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3973", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1135809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135809" }, { "id": "rs1135809", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1135809" }, { "id": "rs1135809", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135809" }, { "id": "rs1135809", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1135809" }, { "id": "rs1135809", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1135809" } ], "glycoeffect": [], "start_pos": 3974, "end_pos": 3974, "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042955", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3974", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1306666803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306666803" }, { "id": "rs1306666803", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1306666803" } ], "glycoeffect": [], "start_pos": 3976, "end_pos": 3976, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042830", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3976", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776540532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776540532" }, { "id": "rs1776540532", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776540532" } ], "glycoeffect": [], "start_pos": 3977, "end_pos": 3977, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042826", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3977", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1220185758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220185758" }, { "id": "rs1220185758", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220185758" } ], "glycoeffect": [], "start_pos": 3977, "end_pos": 3977, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042827", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3977", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1301825020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301825020" }, { "id": "rs1301825020", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1301825020" }, { "id": "rs1301825020", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301825020" } ], "glycoeffect": [], "start_pos": 3979, "end_pos": 3979, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042822", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3979", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1487674563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487674563" }, { "id": "rs1487674563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1487674563" } ], "glycoeffect": [], "start_pos": 397, "end_pos": 397, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096662", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776539390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776539390" }, { "id": "rs1776539390", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776539390" } ], "glycoeffect": [], "start_pos": 3981, "end_pos": 3981, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042816", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3981", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1226164672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226164672" }, { "id": "rs1226164672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226164672" } ], "glycoeffect": [], "start_pos": 3982, "end_pos": 3982, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042812", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3982", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364360302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364360302" }, { "id": "rs1364360302", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364360302" } ], "glycoeffect": [], "start_pos": 3983, "end_pos": 3983, "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042810", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3983", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364360302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364360302" }, { "id": "rs1364360302", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364360302" } ], "glycoeffect": [], "start_pos": 3983, "end_pos": 3983, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042810", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3983", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3985, "end_pos": 3985, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042803", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S3985", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1361707501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361707501" }, { "id": "rs1361707501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361707501" } ], "glycoeffect": [], "start_pos": 3986, "end_pos": 3986, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042801", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs7742632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs7742632" }, { "id": "rs7742632", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs7742632" }, { "id": "rs7742632", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs7742632" }, { "id": "rs7742632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs7742632" }, { "id": "rs7742632", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs7742632" } ], "glycoeffect": [], "start_pos": 3988, "end_pos": 3988, "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042795", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3988", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1776536279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776536279" }, { "id": "rs1776536279", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776536279" } ], "glycoeffect": [], "start_pos": 3989, "end_pos": 3989, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042792", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3989", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1420377180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420377180" }, { "id": "rs1420377180", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1420377180#frequency_tab" } ], "glycoeffect": [], "start_pos": 398, "end_pos": 398, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096659", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D398", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1185970832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185970832" }, { "id": "rs1185970832", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1185970832#frequency_tab" }, { "id": "rs1185970832", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1185970832" } ], "glycoeffect": [], "start_pos": 398, "end_pos": 398, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096661", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D398", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776535464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776535464" }, { "id": "rs1776535464", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776535464" } ], "glycoeffect": [], "start_pos": 3992, "end_pos": 3992, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042783", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3992", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776534932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776534932" }, { "id": "rs1776534932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776534932#frequency_tab" } ], "glycoeffect": [], "start_pos": 3993, "end_pos": 3993, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042779", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3993", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483363178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483363178" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3995, "end_pos": 3995, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042774", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3995", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1776534666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776534666" }, { "id": "rs1776534666", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776534666" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3995, "end_pos": 3995, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042773", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3995", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779475205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779475205" }, { "id": "rs779475205", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779475205" }, { "id": "rs779475205", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779475205" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3997, "end_pos": 3997, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042767", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3997", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1431223984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431223984" }, { "id": "rs1431223984", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431223984" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3997, "end_pos": 3997, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042768", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3997", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779475205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779475205" }, { "id": "rs779475205", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779475205" }, { "id": "rs779475205", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779475205" } ], "glycoeffect": [], "start_pos": 3997, "end_pos": 3997, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042767", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3997", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1262461710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262461710" }, { "id": "rs1262461710", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262461710" } ], "glycoeffect": [], "start_pos": 3999, "end_pos": 3999, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042761", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3999", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs920002679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs920002679" }, { "id": "rs920002679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs920002679" } ], "glycoeffect": [], "start_pos": 3999, "end_pos": 3999, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042762", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3999", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs920002679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs920002679" }, { "id": "rs920002679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs920002679" } ], "glycoeffect": [], "start_pos": 3999, "end_pos": 3999, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042762", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3999", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747637294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747637294" }, { "id": "rs747637294", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747637294" }, { "id": "rs747637294", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747637294#frequency_tab" }, { "id": "rs747637294", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747637294" } ], "glycoeffect": [], "start_pos": 39, "end_pos": 39, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098084", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P39", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 39, "end_pos": 39, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098083", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P39", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2127294445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127294445" }, { "id": "rs2127294445", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127294445" } ], "glycoeffect": [], "start_pos": 39, "end_pos": 39, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098083", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P39", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 39, "end_pos": 39, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098084", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P39", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1484978026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484978026" }, { "id": "rs1484978026", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1484978026" } ], "glycoeffect": [], "start_pos": 4000, "end_pos": 4000, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042758", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4000", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1484978026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484978026" }, { "id": "rs1484978026", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1484978026" } ], "glycoeffect": [], "start_pos": 4000, "end_pos": 4000, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042758", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4000", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1206987790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206987790" }, { "id": "rs1206987790", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1206987790" }, { "id": "rs1206987790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1206987790" } ], "glycoeffect": [], "start_pos": 4000, "end_pos": 4000, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042759", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4000", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562771482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562771482" }, { "id": "rs1562771482", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562771482" } ], "glycoeffect": [], "start_pos": 4001, "end_pos": 4001, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042756", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L4001", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1234319493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1234319493" }, { "id": "rs1234319493", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1234319493" } ], "glycoeffect": [], "start_pos": 4002, "end_pos": 4002, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042753", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q4002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1326079248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326079248" }, { "id": "rs1326079248", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1326079248" } ], "glycoeffect": [], "start_pos": 4002, "end_pos": 4002, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042751", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q4002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776530970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776530970" }, { "id": "rs1776530970", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776530970" } ], "glycoeffect": [], "start_pos": 4003, "end_pos": 4003, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042750", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4003", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200958358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200958358" }, { "id": "rs200958358", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200958358" }, { "id": "rs200958358", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200958358" }, { "id": "rs200958358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200958358" } ], "glycoeffect": [], "start_pos": 4004, "end_pos": 4004, "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042746", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M4004", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200958358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200958358" }, { "id": "rs200958358", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200958358" }, { "id": "rs200958358", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200958358" }, { "id": "rs200958358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200958358" }, { "id": "rs200958358", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200958358" } ], "glycoeffect": [], "start_pos": 4004, "end_pos": 4004, "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042746", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M4004", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1776529978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776529978" }, { "id": "rs1776529978", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776529978" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4008, "end_pos": 4008, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042735", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4008", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776529703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776529703" }, { "id": "rs1776529703", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776529703" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4008, "end_pos": 4008, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042734", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4008", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1351607074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351607074" }, { "id": "rs1351607074", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1351607074#frequency_tab" }, { "id": "rs1351607074", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351607074" } ], "glycoeffect": [], "start_pos": 4009, "end_pos": 4009, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042732", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L4009", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1484499155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484499155" }, { "id": "rs1484499155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1484499155" } ], "glycoeffect": [], "start_pos": 400, "end_pos": 400, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096654", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G400", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 400, "end_pos": 400, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096654", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G400", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs766056728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766056728" }, { "id": "rs766056728", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766056728" }, { "id": "rs766056728", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766056728#frequency_tab" }, { "id": "rs766056728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766056728" }, { "id": "rs766056728", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766056728" } ], "glycoeffect": [], "start_pos": 400, "end_pos": 400, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096655", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G400", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1484499155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484499155" }, { "id": "rs1484499155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1484499155" } ], "glycoeffect": [], "start_pos": 400, "end_pos": 400, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096654", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G400", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1341692715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341692715" }, { "id": "rs1341692715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341692715" } ], "glycoeffect": [], "start_pos": 4011, "end_pos": 4011, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042725", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P4011", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1341692715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341692715" }, { "id": "rs1341692715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341692715" } ], "glycoeffect": [], "start_pos": 4011, "end_pos": 4011, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042725", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P4011", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755749283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755749283" }, { "id": "rs755749283", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755749283" }, { "id": "rs755749283", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755749283" } ], "glycoeffect": [], "start_pos": 4013, "end_pos": 4013, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042720", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V4013", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1940959341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1940959341" }, { "id": "rs1940959341", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1940959341" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4014, "end_pos": 4014, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042716", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4014", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4014, "end_pos": 4014, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042717", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S4014", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1459980018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459980018" }, { "id": "rs1459980018", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1459980018" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4016, "end_pos": 4016, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042711", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4016", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs972769832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs972769832" }, { "id": "rs972769832", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs972769832" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4018, "end_pos": 4018, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042704", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4018", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1407978048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407978048" }, { "id": "rs1407978048", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407978048" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4019, "end_pos": 4019, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042702", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4019", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750096562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750096562" }, { "id": "rs750096562", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750096562" }, { "id": "rs750096562", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750096562" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4019, "end_pos": 4019, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042701", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4019", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1174581014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174581014" }, { "id": "rs1174581014", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1174581014#frequency_tab" }, { "id": "rs1174581014", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174581014" } ], "glycoeffect": [], "start_pos": 401, "end_pos": 401, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096652", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V401", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1174581014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174581014" }, { "id": "rs1174581014", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1174581014#frequency_tab" }, { "id": "rs1174581014", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174581014" } ], "glycoeffect": [], "start_pos": 401, "end_pos": 401, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096652", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V401", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1270186281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270186281" }, { "id": "rs1270186281", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1270186281#frequency_tab" } ], "glycoeffect": [], "start_pos": 4020, "end_pos": 4020, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042606", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776513913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776513913" }, { "id": "rs1776513913", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776513913#frequency_tab" } ], "glycoeffect": [], "start_pos": 4021, "end_pos": 4021, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042603", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4021", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769172135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769172135" }, { "id": "rs769172135", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769172135" }, { "id": "rs769172135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769172135" } ], "glycoeffect": [], "start_pos": 4022, "end_pos": 4022, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042601", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L4022", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779565451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779565451" }, { "id": "rs779565451", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779565451" }, { "id": "rs779565451", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779565451" } ], "glycoeffect": [], "start_pos": 4023, "end_pos": 4023, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042597", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4023", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs4713497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4713497" }, { "id": "rs4713497", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4713497" }, { "id": "rs4713497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs4713497" }, { "id": "rs4713497", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs4713497" } ], "glycoeffect": [], "start_pos": 4023, "end_pos": 4023, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042598", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R4023", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1312451644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312451644" }, { "id": "rs1312451644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312451644#frequency_tab" }, { "id": "rs1312451644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312451644" } ], "glycoeffect": [], "start_pos": 4024, "end_pos": 4024, "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042595", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I4024", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1312451644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312451644" }, { "id": "rs1312451644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312451644#frequency_tab" }, { "id": "rs1312451644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312451644" } ], "glycoeffect": [], "start_pos": 4024, "end_pos": 4024, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042595", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I4024", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 4025, "end_pos": 4025, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042591", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P4025", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 4025, "end_pos": 4025, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042592", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P4025", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1776511840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776511840" }, { "id": "rs1776511840", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776511840" }, { "id": "rs1776511840", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1776511840" } ], "glycoeffect": [], "start_pos": 4027, "end_pos": 4027, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042585", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P4027", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1446904354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446904354" }, { "id": "rs1446904354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446904354" } ], "glycoeffect": [], "start_pos": 4028, "end_pos": 4028, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042582", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4028", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1446904354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446904354" }, { "id": "rs1446904354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446904354" } ], "glycoeffect": [], "start_pos": 4028, "end_pos": 4028, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042582", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4028", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582476253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582476253" }, { "id": "rs1582476253", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1582476253#frequency_tab" }, { "id": "rs1582476253", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1582476253" } ], "glycoeffect": [], "start_pos": 402, "end_pos": 402, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096649", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R402", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760374196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760374196" }, { "id": "rs760374196", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760374196" }, { "id": "rs760374196", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760374196" }, { "id": "rs760374196", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760374196" } ], "glycoeffect": [], "start_pos": 402, "end_pos": 402, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096648", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R402", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1776511001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776511001" }, { "id": "rs1776511001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776511001#frequency_tab" } ], "glycoeffect": [], "start_pos": 4030, "end_pos": 4030, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042576", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C4030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780818272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780818272" }, { "id": "rs780818272", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780818272" }, { "id": "rs780818272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780818272" } ], "glycoeffect": [], "start_pos": 4031, "end_pos": 4031, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042573", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4031", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780818272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780818272" }, { "id": "rs780818272", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780818272" }, { "id": "rs780818272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780818272" }, { "id": "rs780818272", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780818272" } ], "glycoeffect": [], "start_pos": 4031, "end_pos": 4031, "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042573", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4031", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs62402682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62402682" }, { "id": "rs62402682", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs62402682" }, { "id": "rs62402682", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62402682" }, { "id": "rs62402682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs62402682" }, { "id": "rs62402682", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs62402682" } ], "glycoeffect": [], "start_pos": 4031, "end_pos": 4031, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042574", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4031", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 4032, "end_pos": 4032, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042571", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E4032", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751337163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751337163" }, { "id": "rs751337163", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751337163" }, { "id": "rs751337163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751337163" } ], "glycoeffect": [], "start_pos": 4033, "end_pos": 4033, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042567", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4033", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751337163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751337163" }, { "id": "rs751337163", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751337163" }, { "id": "rs751337163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751337163" } ], "glycoeffect": [], "start_pos": 4033, "end_pos": 4033, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042567", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4033", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762896658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762896658" }, { "id": "rs762896658", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762896658" }, { "id": "rs762896658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762896658" } ], "glycoeffect": [], "start_pos": 4034, "end_pos": 4034, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042563", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M4034", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766412096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766412096" }, { "id": "rs766412096", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766412096" }, { "id": "rs766412096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766412096" } ], "glycoeffect": [], "start_pos": 4036, "end_pos": 4036, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042557", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4036", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752587550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752587550" }, { "id": "rs752587550", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752587550" }, { "id": "rs752587550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752587550#frequency_tab" }, { "id": "rs752587550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752587550" } ], "glycoeffect": [], "start_pos": 4036, "end_pos": 4036, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042559", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4036", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760828649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760828649" }, { "id": "rs760828649", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760828649" }, { "id": "rs760828649", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760828649" } ], "glycoeffect": [], "start_pos": 4037, "end_pos": 4037, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042556", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4037", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776506746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776506746" }, { "id": "rs1776506746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776506746#frequency_tab" } ], "glycoeffect": [], "start_pos": 4038, "end_pos": 4038, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042552", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4038", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1422798835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422798835" }, { "id": "rs1422798835", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1422798835" } ], "glycoeffect": [], "start_pos": 4039, "end_pos": 4039, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042549", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762169843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762169843" }, { "id": "rs762169843", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762169843" }, { "id": "rs762169843", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762169843#frequency_tab" }, { "id": "rs762169843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762169843" } ], "glycoeffect": [], "start_pos": 4039, "end_pos": 4039, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042550", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1422798835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422798835" }, { "id": "rs1422798835", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1422798835" } ], "glycoeffect": [], "start_pos": 4039, "end_pos": 4039, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042549", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762169843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762169843" }, { "id": "rs762169843", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762169843" }, { "id": "rs762169843", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762169843#frequency_tab" }, { "id": "rs762169843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762169843" } ], "glycoeffect": [], "start_pos": 4039, "end_pos": 4039, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042550", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs762169843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762169843" }, { "id": "rs762169843", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762169843" }, { "id": "rs762169843", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762169843#frequency_tab" }, { "id": "rs762169843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762169843" } ], "glycoeffect": [], "start_pos": 4039, "end_pos": 4039, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042550", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G4039", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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", "germline" ] }, { "evidence": [ { "id": "rs1336618887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1336618887" }, { "id": "rs1336618887", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1336618887#frequency_tab" }, { "id": "rs1336618887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1336618887" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 403, "end_pos": 403, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096646", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S403", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776505026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776505026" }, { "id": "rs1776505026", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776505026" } ], "glycoeffect": [], "start_pos": 4040, "end_pos": 4040, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042546", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4040", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774740072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774740072" }, { "id": "rs774740072", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774740072" }, { "id": "rs774740072", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774740072#frequency_tab" }, { "id": "rs774740072", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774740072" } ], "glycoeffect": [], "start_pos": 4040, "end_pos": 4040, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042547", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4040", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1225441714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225441714" }, { "id": "rs1225441714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225441714" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4041, "end_pos": 4041, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042543", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4041", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1377639495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377639495" }, { "id": "rs1377639495", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1377639495#frequency_tab" } ], "glycoeffect": [], "start_pos": 4042, "end_pos": 4042, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042541", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4042", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768927115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768927115" }, { "id": "rs768927115", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768927115" }, { "id": "rs768927115", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768927115" }, { "id": "rs768927115", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768927115" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4044, "end_pos": 4044, "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042535", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4044", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs768927115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768927115" }, { "id": "rs768927115", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768927115" }, { "id": "rs768927115", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768927115" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4044, "end_pos": 4044, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042535", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4044", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1289013739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289013739" }, { "id": "rs1289013739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289013739" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4045, "end_pos": 4045, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042531", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4045", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780430990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780430990" }, { "id": "rs780430990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780430990" }, { "id": "rs780430990", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780430990#frequency_tab" }, { "id": "rs780430990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780430990" } ], "glycoeffect": [], "start_pos": 4048, "end_pos": 4048, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042523", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L4048", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs574162633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574162633" }, { "id": "rs574162633", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574162633" }, { "id": "rs574162633", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574162633" }, { "id": "rs574162633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574162633" } ], "glycoeffect": [], "start_pos": 4048, "end_pos": 4048, "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042522", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L4048", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756862408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756862408" }, { "id": "rs756862408", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756862408" }, { "id": "rs756862408", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756862408#frequency_tab" }, { "id": "rs756862408", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756862408" } ], "glycoeffect": [], "start_pos": 4050, "end_pos": 4050, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042517", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4050", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756862408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756862408" }, { "id": "rs756862408", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756862408" }, { "id": "rs756862408", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756862408#frequency_tab" }, { "id": "rs756862408", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756862408" } ], "glycoeffect": [], "start_pos": 4050, "end_pos": 4050, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042517", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4050", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs555934711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555934711" }, { "id": "rs555934711", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555934711" }, { "id": "rs555934711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555934711" }, { "id": "rs555934711", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555934711" } ], "glycoeffect": [], "start_pos": 4052, "end_pos": 4052, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042511", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R4052", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs555934711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555934711" }, { "id": "rs555934711", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555934711" }, { "id": "rs555934711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555934711" }, { "id": "rs555934711", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555934711" } ], "glycoeffect": [], "start_pos": 4052, "end_pos": 4052, "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042511", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4052", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs751192303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751192303" }, { "id": "rs751192303", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751192303" }, { "id": "rs751192303", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751192303" }, { "id": "rs751192303", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751192303" } ], "glycoeffect": [], "start_pos": 4052, "end_pos": 4052, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042510", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4052", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs751192303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751192303" }, { "id": "rs751192303", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751192303" }, { "id": "rs751192303", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751192303" } ], "glycoeffect": [], "start_pos": 4052, "end_pos": 4052, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042510", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4052", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752600390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752600390" }, { "id": "rs752600390", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752600390" }, { "id": "rs752600390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752600390" } ], "glycoeffect": [], "start_pos": 4053, "end_pos": 4053, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042508", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4053", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752600390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752600390" }, { "id": "rs752600390", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752600390" }, { "id": "rs752600390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752600390" } ], "glycoeffect": [], "start_pos": 4053, "end_pos": 4053, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042508", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4053", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750503667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750503667" }, { "id": "rs750503667", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750503667" }, { "id": "rs750503667", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750503667#frequency_tab" }, { "id": "rs750503667", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750503667" } ], "glycoeffect": [], "start_pos": 4054, "end_pos": 4054, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042504", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4054", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs750503667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750503667" }, { "id": "rs750503667", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750503667" }, { "id": "rs750503667", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750503667#frequency_tab" }, { "id": "rs750503667", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750503667" }, { "id": "rs750503667", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750503667" } ], "glycoeffect": [], "start_pos": 4054, "end_pos": 4054, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042504", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4054", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs765249475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765249475" }, { "id": "rs765249475", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765249475" }, { "id": "rs765249475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765249475" }, { "id": "rs765249475", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765249475" } ], "glycoeffect": [], "start_pos": 4054, "end_pos": 4054, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042505", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4054", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 4055, "end_pos": 4055, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042501", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P4055", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1157116449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157116449" }, { "id": "rs1157116449", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157116449" } ], "glycoeffect": [], "start_pos": 4055, "end_pos": 4055, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042502", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P4055", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151880909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151880909" }, { "id": "rs2151880909", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151880909" } ], "glycoeffect": [], "start_pos": 4056, "end_pos": 4056, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042498", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L4056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483359338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483359338" } ], "glycoeffect": [], "start_pos": 4056, "end_pos": 4056, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042498", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L4056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs17421133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17421133" }, { "id": "rs17421133", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17421133" }, { "id": "rs17421133", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17421133" }, { "id": "rs17421133", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs17421133#frequency_tab" }, { "id": "rs17421133", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs17421133" }, { "id": "rs17421133", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17421133" } ], "glycoeffect": [], "start_pos": 4057, "end_pos": 4057, "sequence_org": "N", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042495", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4057", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs763223867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763223867" }, { "id": "rs763223867", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763223867" }, { "id": "rs763223867", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763223867#frequency_tab" }, { "id": "rs763223867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763223867" } ], "glycoeffect": [], "start_pos": 4058, "end_pos": 4058, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042493", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V4058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763223867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763223867" }, { "id": "rs763223867", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763223867" }, { "id": "rs763223867", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763223867#frequency_tab" }, { "id": "rs763223867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763223867" } ], "glycoeffect": [], "start_pos": 4058, "end_pos": 4058, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042493", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V4058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483760359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483760359" } ], "glycoeffect": [], "start_pos": 405, "end_pos": 405, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096639", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P405", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1219369073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1219369073" }, { "id": "rs1219369073", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1219369073" } ], "glycoeffect": [], "start_pos": 405, "end_pos": 405, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096640", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P405", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs56345590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs56345590" }, { "id": "rs56345590", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs56345590" }, { "id": "rs56345590", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs56345590" }, { "id": "rs56345590", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs56345590" } ], "glycoeffect": [], "start_pos": 4060, "end_pos": 4060, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042485", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C4060", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2483359112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483359112" } ], "glycoeffect": [], "start_pos": 4060, "end_pos": 4060, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042486", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C4060", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs569152212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569152212" }, { "id": "rs569152212", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs569152212" }, { "id": "rs569152212", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569152212" }, { "id": "rs569152212", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs569152212#frequency_tab" }, { "id": "rs569152212", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs569152212" } ], "glycoeffect": [], "start_pos": 4061, "end_pos": 4061, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042484", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D4061", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs776068601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776068601" }, { "id": "rs776068601", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776068601" }, { "id": "rs776068601", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776068601#frequency_tab" }, { "id": "rs776068601", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776068601" } ], "glycoeffect": [], "start_pos": 4062, "end_pos": 4062, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042481", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M4062", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770439332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770439332" }, { "id": "rs770439332", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770439332" }, { "id": "rs770439332", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770439332" } ], "glycoeffect": [], "start_pos": 4062, "end_pos": 4062, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042480", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M4062", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746602426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746602426" }, { "id": "rs746602426", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746602426" }, { "id": "rs746602426", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746602426" } ], "glycoeffect": [], "start_pos": 4063, "end_pos": 4063, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042477", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746602426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746602426" }, { "id": "rs746602426", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746602426" }, { "id": "rs746602426", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746602426" } ], "glycoeffect": [], "start_pos": 4063, "end_pos": 4063, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042477", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1283719204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283719204" }, { "id": "rs1283719204", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283719204" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4064, "end_pos": 4064, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042475", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4064", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1274263481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274263481" }, { "id": "rs1274263481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274263481" } ], "glycoeffect": [], "start_pos": 4065, "end_pos": 4065, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042471", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4065", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758123470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758123470" }, { "id": "rs758123470", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758123470" }, { "id": "rs758123470", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758123470" } ], "glycoeffect": [], "start_pos": 4065, "end_pos": 4065, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042472", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4065", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1347099805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347099805" }, { "id": "rs1347099805", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1347099805#frequency_tab" }, { "id": "rs1347099805", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347099805" } ], "glycoeffect": [], "start_pos": 4067, "end_pos": 4067, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042465", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4067", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs754930299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754930299" }, { "id": "rs754930299", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754930299" }, { "id": "rs754930299", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754930299#frequency_tab" }, { "id": "rs754930299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754930299" } ], "glycoeffect": [], "start_pos": 4068, "end_pos": 4068, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042463", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G4068", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1011692876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011692876" }, { "id": "rs1011692876", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1011692876#frequency_tab" }, { "id": "rs1011692876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1011692876" } ], "glycoeffect": [], "start_pos": 4069, "end_pos": 4069, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042458", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W4069", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1325904560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325904560" }, { "id": "rs1325904560", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325904560" } ], "glycoeffect": [], "start_pos": 406, "end_pos": 406, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096637", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G406", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs587777682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777682" }, { "id": "rs587777682", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777682" }, { "id": "rs587777682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs587777682" }, { "id": "23768946", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23768946" }, { "id": "rs587777682", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs587777682" } ], "glycoeffect": [], "start_pos": 4074, "end_pos": 4074, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042353", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R4074", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs766771216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766771216" }, { "id": "rs766771216", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766771216" }, { "id": "rs766771216", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766771216" } ], "glycoeffect": [], "start_pos": 4074, "end_pos": 4074, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042352", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R4074", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1562769769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562769769" }, { "id": "rs1562769769", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562769769" }, { "id": "rs1562769769", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1562769769" } ], "glycoeffect": [], "start_pos": 4075, "end_pos": 4075, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042350", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R4075", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs201510617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201510617" }, { "id": "rs201510617", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201510617" }, { "id": "rs201510617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201510617" }, { "id": "rs201510617", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201510617" } ], "glycoeffect": [], "start_pos": 4075, "end_pos": 4075, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042349", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4075", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs201510617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201510617" }, { "id": "rs201510617", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201510617" }, { "id": "rs201510617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201510617" } ], "glycoeffect": [], "start_pos": 4075, "end_pos": 4075, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042349", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4075", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776479450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776479450" }, { "id": "rs1776479450", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776479450" } ], "glycoeffect": [], "start_pos": 4076, "end_pos": 4076, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042346", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M4076", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1229932133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1229932133" }, { "id": "rs1229932133", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1229932133#frequency_tab" } ], "glycoeffect": [], "start_pos": 4077, "end_pos": 4077, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042343", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4077", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771638194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771638194" }, { "id": "rs771638194", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771638194" }, { "id": "rs771638194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771638194" } ], "glycoeffect": [], "start_pos": 4077, "end_pos": 4077, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042344", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4077", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776478621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776478621" }, { "id": "rs1776478621", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776478621" } ], "glycoeffect": [], "start_pos": 4078, "end_pos": 4078, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042340", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4078", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1309212902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309212902" }, { "id": "rs1309212902", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309212902" } ], "glycoeffect": [], "start_pos": 4079, "end_pos": 4079, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042338", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q4079", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780399675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780399675" }, { "id": "rs1780399675", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780399675" } ], "glycoeffect": [], "start_pos": 407, "end_pos": 407, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096633", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D407", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483760280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483760280" } ], "glycoeffect": [], "start_pos": 407, "end_pos": 407, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096632", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D407", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1397746200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397746200" }, { "id": "rs1397746200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1397746200" } ], "glycoeffect": [], "start_pos": 407, "end_pos": 407, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096634", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D407", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1397746200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397746200" }, { "id": "rs1397746200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1397746200" } ], "glycoeffect": [], "start_pos": 407, "end_pos": 407, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096634", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D407", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761317072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761317072" }, { "id": "rs761317072", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761317072" }, { "id": "rs761317072", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761317072" }, { "id": "rs761317072", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs761317072" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4080, "end_pos": 4080, "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042335", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4080", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs761317072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761317072" }, { "id": "rs761317072", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761317072" }, { "id": "rs761317072", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761317072" } ], "glycoeffect": [], "start_pos": 4080, "end_pos": 4080, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042335", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4080", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1227773962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1227773962" }, { "id": "rs1227773962", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1227773962" } ], "glycoeffect": [], "start_pos": 4081, "end_pos": 4081, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042331", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4081", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 4082, "end_pos": 4082, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042328", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F4082", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs774153644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774153644" }, { "id": "rs774153644", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774153644" }, { "id": "rs774153644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774153644" } ], "glycoeffect": [], "start_pos": 4082, "end_pos": 4082, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042328", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F4082", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1317394830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317394830" }, { "id": "rs1317394830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317394830" } ], "glycoeffect": [], "start_pos": 4083, "end_pos": 4083, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042326", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W4083", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1450774254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450774254" }, { "id": "rs1450774254", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450774254" } ], "glycoeffect": [], "start_pos": 4084, "end_pos": 4084, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042322", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4084", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 4084, "end_pos": 4084, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042322", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R4084", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 4086, "end_pos": 4086, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042316", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W4086", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1299121253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299121253" }, { "id": "rs1299121253", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299121253" } ], "glycoeffect": [], "start_pos": 4086, "end_pos": 4086, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042315", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W4086", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776475779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776475779" }, { "id": "rs1776475779", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776475779" } ], "glycoeffect": [], "start_pos": 4086, "end_pos": 4086, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042317", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W4086", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483356861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483356861" } ], "glycoeffect": [], "start_pos": 4087, "end_pos": 4087, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042314", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4087", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1402738665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402738665" }, { "id": "rs1402738665", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402738665" } ], "glycoeffect": [], "start_pos": 408, "end_pos": 408, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096630", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776474948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776474948" }, { "id": "rs1776474948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776474948" } ], "glycoeffect": [], "start_pos": 4090, "end_pos": 4090, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042305", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4090", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168588376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168588376" }, { "id": "rs1168588376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168588376" } ], "glycoeffect": [], "start_pos": 4091, "end_pos": 4091, "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042302", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H4091", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1428522788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1428522788" }, { "id": "rs1428522788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1428522788" }, { "id": "rs1428522788", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1428522788" } ], "glycoeffect": [], "start_pos": 4091, "end_pos": 4091, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042301", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H4091", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs780043678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780043678" }, { "id": "rs780043678", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780043678" }, { "id": "rs780043678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780043678" } ], "glycoeffect": [], "start_pos": 4092, "end_pos": 4092, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042298", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4092", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1421722776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421722776" }, { "id": "rs1421722776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421722776" } ], "glycoeffect": [], "start_pos": 4093, "end_pos": 4093, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042294", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F4093", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769577833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769577833" }, { "id": "rs769577833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769577833" }, { "id": "rs769577833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769577833" } ], "glycoeffect": [], "start_pos": 4096, "end_pos": 4096, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042286", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I4096", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1424038404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424038404" }, { "id": "rs1424038404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424038404" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096627", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N409", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1424038404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424038404" }, { "id": "rs1424038404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424038404" } ], "glycoeffect": [], "start_pos": 409, "end_pos": 409, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096627", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N409", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745839678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745839678" }, { "id": "rs745839678", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745839678" }, { "id": "rs745839678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745839678" } ], "glycoeffect": [], "start_pos": 4101, "end_pos": 4101, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042270", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W4101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1481539135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1481539135" }, { "id": "rs1481539135", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1481539135#frequency_tab" }, { "id": "rs1481539135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1481539135" } ], "glycoeffect": [], "start_pos": 4102, "end_pos": 4102, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042269", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L4102", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776461412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776461412" }, { "id": "rs1776461412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776461412" } ], "glycoeffect": [], "start_pos": 4108, "end_pos": 4108, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042159", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H4108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776460820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776460820" }, { "id": "rs1776460820", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776460820" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4109, "end_pos": 4109, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042154", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1315473690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315473690" }, { "id": "rs1315473690", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315473690" } ], "glycoeffect": [], "start_pos": 4113, "end_pos": 4113, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042144", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776459879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776459879" }, { "id": "rs1776459879", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776459879" } ], "glycoeffect": [], "start_pos": 4114, "end_pos": 4114, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042140", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776459158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776459158" }, { "id": "rs1776459158", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776459158" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4116, "end_pos": 4116, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042135", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y4116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776459158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776459158" }, { "id": "rs1776459158", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776459158" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4116, "end_pos": 4116, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042135", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y4116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766874405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766874405" }, { "id": "rs766874405", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766874405" }, { "id": "rs766874405", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766874405" } ], "glycoeffect": [], "start_pos": 4118, "end_pos": 4118, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042129", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M4118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1184101292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184101292" }, { "id": "rs1184101292", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1184101292" } ], "glycoeffect": [], "start_pos": 4119, "end_pos": 4119, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042126", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R4119", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs6941704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6941704" }, { "id": "rs6941704", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6941704" } ], "glycoeffect": [], "start_pos": 4119, "end_pos": 4119, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042125", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1220046184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220046184" }, { "id": "rs1220046184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220046184" } ], "glycoeffect": [], "start_pos": 411, "end_pos": 411, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096622", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280981393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280981393" }, { "id": "rs1280981393", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1280981393#frequency_tab" }, { "id": "rs1280981393", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280981393" } ], "glycoeffect": [], "start_pos": 411, "end_pos": 411, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096621", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776457406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776457406" }, { "id": "rs1776457406", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1776457406" } ], "glycoeffect": [], "start_pos": 4120, "end_pos": 4120, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042123", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V4120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs912541203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs912541203" }, { "id": "rs912541203", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs912541203" } ], "glycoeffect": [], "start_pos": 4122, "end_pos": 4122, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042117", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L4122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776456440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776456440" }, { "id": "rs1776456440", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776456440" } ], "glycoeffect": [], "start_pos": 4123, "end_pos": 4123, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042113", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4123", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1284572333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284572333" }, { "id": "rs1284572333", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284572333" } ], "glycoeffect": [], "start_pos": 4125, "end_pos": 4125, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042108", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4125", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1431222230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431222230" } ], "glycoeffect": [], "start_pos": 4126, "end_pos": 4126, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042105", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4126", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1776455440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776455440" }, { "id": "rs1776455440", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776455440" } ], "glycoeffect": [], "start_pos": 4126, "end_pos": 4126, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042104", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1431222230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431222230" }, { "id": "rs1431222230", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1431222230#frequency_tab" } ], "glycoeffect": [], "start_pos": 4126, "end_pos": 4126, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042105", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376281266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376281266" }, { "id": "rs376281266", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376281266" }, { "id": "rs376281266", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376281266" } ], "glycoeffect": [], "start_pos": 4127, "end_pos": 4127, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042102", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4127", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 412, "end_pos": 412, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096619", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G412", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1386115377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386115377" }, { "id": "rs1386115377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386115377" } ], "glycoeffect": [], "start_pos": 4131, "end_pos": 4131, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042090", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213941706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213941706" }, { "id": "rs1213941706", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213941706" } ], "glycoeffect": [], "start_pos": 4134, "end_pos": 4134, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042081", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1470192911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470192911" }, { "id": "rs1470192911", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1470192911" } ], "glycoeffect": [], "start_pos": 4136, "end_pos": 4136, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042073", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F4136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs987462699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs987462699" }, { "id": "rs987462699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs987462699" } ], "glycoeffect": [], "start_pos": 4138, "end_pos": 4138, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042069", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V4138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232348965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232348965" }, { "id": "rs1232348965", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1232348965#frequency_tab" } ], "glycoeffect": [], "start_pos": 4139, "end_pos": 4139, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042066", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4139", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771629935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771629935" }, { "id": "rs771629935", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771629935" }, { "id": "rs771629935", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771629935#frequency_tab" }, { "id": "rs771629935", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771629935" } ], "glycoeffect": [], "start_pos": 413, "end_pos": 413, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096616", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1468024295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468024295" }, { "id": "rs1468024295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468024295" } ], "glycoeffect": [], "start_pos": 413, "end_pos": 413, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096615", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs533430441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533430441" }, { "id": "rs533430441", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs533430441" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4140, "end_pos": 4140, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042062", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582318995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582318995" }, { "id": "rs1582318995", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1582318995#frequency_tab" } ], "glycoeffect": [], "start_pos": 4142, "end_pos": 4142, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042056", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1212613399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212613399" }, { "id": "rs1212613399", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1212613399" } ], "glycoeffect": [], "start_pos": 4143, "end_pos": 4143, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042054", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768401117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768401117" }, { "id": "rs768401117", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768401117" }, { "id": "rs768401117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768401117" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4145, "end_pos": 4145, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042046", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y4145", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1267835905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267835905" }, { "id": "rs1267835905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1267835905" } ], "glycoeffect": [], "start_pos": 4146, "end_pos": 4146, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042045", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1204718828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204718828" }, { "id": "rs1204718828", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1204718828" } ], "glycoeffect": [], "start_pos": 4146, "end_pos": 4146, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042044", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776448526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776448526" }, { "id": "rs1776448526", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776448526" } ], "glycoeffect": [], "start_pos": 4147, "end_pos": 4147, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042042", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L4147", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1326188522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326188522" }, { "id": "rs1326188522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1326188522" } ], "glycoeffect": [], "start_pos": 4148, "end_pos": 4148, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042038", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H4148", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747549460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747549460" }, { "id": "rs747549460", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747549460" }, { "id": "rs747549460", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747549460#frequency_tab" }, { "id": "rs747549460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747549460" } ], "glycoeffect": [], "start_pos": 414, "end_pos": 414, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096611", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C414", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 414, "end_pos": 414, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096612", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C414", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1776447712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776447712" }, { "id": "rs1776447712", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776447712#frequency_tab" } ], "glycoeffect": [], "start_pos": 4150, "end_pos": 4150, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042031", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776447141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776447141" }, { "id": "rs1776447141", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776447141" } ], "glycoeffect": [], "start_pos": 4151, "end_pos": 4151, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042029", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4151", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776447447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776447447" }, { "id": "rs1776447447", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776447447" } ], "glycoeffect": [], "start_pos": 4151, "end_pos": 4151, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042030", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4151", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776447141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776447141" }, { "id": "rs1776447141", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776447141" } ], "glycoeffect": [], "start_pos": 4151, "end_pos": 4151, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042029", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4151", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs954287490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs954287490" }, { "id": "rs954287490", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs954287490" } ], "glycoeffect": [], "start_pos": 4153, "end_pos": 4153, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042022", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H4153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1248083035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248083035" }, { "id": "rs1248083035", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1248083035" } ], "glycoeffect": [], "start_pos": 4153, "end_pos": 4153, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042023", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H4153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1233203672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233203672" }, { "id": "rs1233203672", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1233203672#frequency_tab" }, { "id": "rs1233203672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233203672" } ], "glycoeffect": [], "start_pos": 4154, "end_pos": 4154, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042021", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4154", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776445352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776445352" }, { "id": "rs1776445352", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776445352" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4155, "end_pos": 4155, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042017", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762735515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762735515" }, { "id": "rs762735515", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762735515" }, { "id": "rs762735515", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762735515" } ], "glycoeffect": [], "start_pos": 4156, "end_pos": 4156, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042015", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4156", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582318720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582318720" }, { "id": "rs1582318720", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582318720" } ], "glycoeffect": [], "start_pos": 4157, "end_pos": 4157, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32042012", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4157", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554307258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554307258" }, { "id": "rs1554307258", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1554307258" } ], "glycoeffect": [], "start_pos": 4158, "end_pos": 4158, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041931", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776438711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776438711" }, { "id": "rs1776438711", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776438711" } ], "glycoeffect": [], "start_pos": 4158, "end_pos": 4158, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041932", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554307258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554307258" }, { "id": "rs1554307258", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1554307258" } ], "glycoeffect": [], "start_pos": 4158, "end_pos": 4158, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041931", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 415, "end_pos": 415, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096608", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E415", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780397784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780397784" }, { "id": "rs1780397784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780397784" } ], "glycoeffect": [], "start_pos": 415, "end_pos": 415, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096610", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1485036606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485036606" }, { "id": "rs1485036606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1485036606" } ], "glycoeffect": [], "start_pos": 415, "end_pos": 415, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096609", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776438081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776438081" }, { "id": "rs1776438081", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776438081" } ], "glycoeffect": [], "start_pos": 4160, "end_pos": 4160, "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041925", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M4160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1467532603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467532603" }, { "id": "rs1467532603", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1467532603#frequency_tab" }, { "id": "rs1467532603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467532603" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4161, "end_pos": 4161, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041922", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1191147506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191147506" }, { "id": "rs1191147506", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1191147506" } ], "glycoeffect": [], "start_pos": 4162, "end_pos": 4162, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041919", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y4162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776437004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776437004" }, { "id": "rs1776437004", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776437004" } ], "glycoeffect": [], "start_pos": 4163, "end_pos": 4163, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041916", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H4163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776436671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776436671" }, { "id": "rs1776436671", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776436671" } ], "glycoeffect": [], "start_pos": 4163, "end_pos": 4163, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041915", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H4163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1373672488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373672488" }, { "id": "rs1373672488", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1373672488#frequency_tab" }, { "id": "rs1373672488", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373672488" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4164, "end_pos": 4164, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041912", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1447820436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447820436" }, { "id": "rs1447820436", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447820436" } ], "glycoeffect": [], "start_pos": 4165, "end_pos": 4165, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041910", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1172643715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172643715" }, { "id": "rs1172643715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172643715" } ], "glycoeffect": [], "start_pos": 4165, "end_pos": 4165, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041911", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1172643715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172643715" }, { "id": "rs1172643715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172643715" } ], "glycoeffect": [], "start_pos": 4165, "end_pos": 4165, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041911", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4165", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1247641476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247641476" }, { "id": "rs1247641476", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1247641476" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4166, "end_pos": 4166, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041907", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159632753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159632753" }, { "id": "rs1159632753", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1159632753" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4169, "end_pos": 4169, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041899", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775030992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775030992" }, { "id": "rs775030992", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775030992" }, { "id": "rs775030992", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775030992#frequency_tab" }, { "id": "rs775030992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775030992" } ], "glycoeffect": [], "start_pos": 416, "end_pos": 416, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096605", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D416", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127291133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127291133" }, { "id": "rs2127291133", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127291133" } ], "glycoeffect": [], "start_pos": 416, "end_pos": 416, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096606", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D416", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184506203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184506203" }, { "id": "rs1184506203", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184506203" } ], "glycoeffect": [], "start_pos": 4170, "end_pos": 4170, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041896", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184506203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184506203" }, { "id": "rs1184506203", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184506203" } ], "glycoeffect": [], "start_pos": 4170, "end_pos": 4170, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041896", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1462906903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462906903" }, { "id": "rs1462906903", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1462906903" }, { "id": "rs1462906903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1462906903" } ], "glycoeffect": [], "start_pos": 4171, "end_pos": 4171, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041893", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1462906903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462906903" }, { "id": "rs1462906903", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1462906903" }, { "id": "rs1462906903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1462906903" } ], "glycoeffect": [], "start_pos": 4171, "end_pos": 4171, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041893", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs544604053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544604053" }, { "id": "rs544604053", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544604053" }, { "id": "rs544604053", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544604053" }, { "id": "rs544604053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544604053" } ], "glycoeffect": [], "start_pos": 4171, "end_pos": 4171, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041892", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4171", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs1340694992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1340694992" }, { "id": "rs1340694992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1340694992" } ], "glycoeffect": [], "start_pos": 4173, "end_pos": 4173, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041886", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1340694992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1340694992" }, { "id": "rs1340694992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1340694992" } ], "glycoeffect": [], "start_pos": 4173, "end_pos": 4173, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041886", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1200333067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200333067" }, { "id": "rs1200333067", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1200333067" } ], "glycoeffect": [], "start_pos": 4173, "end_pos": 4173, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041887", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1278061653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1278061653" }, { "id": "rs1278061653", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1278061653#frequency_tab" }, { "id": "rs1278061653", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1278061653" } ], "glycoeffect": [], "start_pos": 4174, "end_pos": 4174, "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041882", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4174", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs200523717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200523717" }, { "id": "rs200523717", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200523717" }, { "id": "rs200523717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200523717" }, { "id": "rs200523717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200523717" }, { "id": "rs200523717", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200523717" } ], "glycoeffect": [], "start_pos": 4174, "end_pos": 4174, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041884", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4174", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs1253808728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253808728" }, { "id": "rs1253808728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253808728" } ], "glycoeffect": [], "start_pos": 4174, "end_pos": 4174, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041883", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D4174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151879527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151879527" } ], "glycoeffect": [], "start_pos": 4176, "end_pos": 4176, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041882", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4176", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs199953230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199953230" }, { "id": "rs199953230", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199953230" }, { "id": "rs199953230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199953230" }, { "id": "rs199953230", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199953230" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4177, "end_pos": 4177, "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041874", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4177", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs1296388827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1296388827" }, { "id": "rs1296388827", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1296388827" } ], "glycoeffect": [], "start_pos": 4179, "end_pos": 4179, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041869", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L4179", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769236692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769236692" }, { "id": "rs769236692", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769236692" }, { "id": "rs769236692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769236692" } ], "glycoeffect": [], "start_pos": 417, "end_pos": 417, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096604", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G417", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs529350337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529350337" }, { "id": "rs529350337", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529350337" }, { "id": "rs529350337", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529350337" }, { "id": "rs529350337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529350337" } ], "glycoeffect": [], "start_pos": 4180, "end_pos": 4180, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041864", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I4180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776429145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776429145" }, { "id": "rs1776429145", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776429145" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4181, "end_pos": 4181, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041862", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483351990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483351990" } ], "glycoeffect": [], "start_pos": 4182, "end_pos": 4182, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041860", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C4182", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs144415985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144415985" }, { "id": "rs144415985", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144415985" }, { "id": "rs144415985", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144415985" }, { "id": "rs144415985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144415985" }, { "id": "rs144415985", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144415985" } ], "glycoeffect": [], "start_pos": 4183, "end_pos": 4183, "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041857", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4183", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 4183, "end_pos": 4183, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32041856", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A4183", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1331977185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331977185" }, { "id": "rs1331977185", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1331977185" } ], "glycoeffect": [], "start_pos": 4184, "end_pos": 4184, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041854", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V4184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1395329257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1395329257" }, { "id": "rs1395329257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1395329257" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4185, "end_pos": 4185, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041850", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4185", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755150009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755150009" }, { "id": "rs755150009", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755150009" }, { "id": "rs755150009", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755150009" }, { "id": "rs755150009", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755150009" } ], "glycoeffect": [], "start_pos": 4187, "end_pos": 4187, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041845", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754085636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754085636" }, { "id": "rs754085636", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754085636" }, { "id": "rs754085636", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754085636" }, { "id": "rs754085636", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754085636" } ], "glycoeffect": [], "start_pos": 4187, "end_pos": 4187, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041844", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776426238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776426238" }, { "id": "rs1776426238", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776426238" } ], "glycoeffect": [], "start_pos": 4189, "end_pos": 4189, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041838", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4189", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1389687490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389687490" }, { "id": "rs1389687490", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389687490" } ], "glycoeffect": [], "start_pos": 4189, "end_pos": 4189, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041839", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4189", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs570402166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570402166" }, { "id": "rs570402166", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570402166" }, { "id": "rs570402166", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570402166" }, { "id": "rs570402166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs570402166#frequency_tab" }, { "id": "rs570402166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs570402166" }, { "id": "rs570402166", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570402166" } ], "glycoeffect": [], "start_pos": 418, "end_pos": 418, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096601", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R418", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs570402166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570402166" }, { "id": "rs570402166", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570402166" }, { "id": "rs570402166", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570402166" }, { "id": "rs570402166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs570402166#frequency_tab" }, { "id": "rs570402166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs570402166" } ], "glycoeffect": [], "start_pos": 418, "end_pos": 418, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096601", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R418", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1444644069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1444644069" }, { "id": "rs1444644069", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1444644069" }, { "id": "rs1444644069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1444644069" } ], "glycoeffect": [], "start_pos": 418, "end_pos": 418, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096600", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R418", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1444644069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1444644069" }, { "id": "rs1444644069", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1444644069" }, { "id": "rs1444644069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1444644069" }, { "id": "rs1444644069", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1444644069" } ], "glycoeffect": [], "start_pos": 418, "end_pos": 418, "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096600", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R418", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs570402166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570402166" } ], "glycoeffect": [], "start_pos": 418, "end_pos": 418, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096601", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R418", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776425925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776425925" }, { "id": "rs1776425925", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776425925" } ], "glycoeffect": [], "start_pos": 4190, "end_pos": 4190, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041834", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W4190", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1028528088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1028528088" }, { "id": "rs1028528088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1028528088" } ], "glycoeffect": [], "start_pos": 4193, "end_pos": 4193, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041827", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776425358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776425358" }, { "id": "rs1776425358", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776425358" } ], "glycoeffect": [], "start_pos": 4194, "end_pos": 4194, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041824", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780228306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780228306" }, { "id": "rs780228306", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780228306" }, { "id": "rs780228306", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780228306" } ], "glycoeffect": [], "start_pos": 4195, "end_pos": 4195, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041820", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C4195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1446692674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446692674" }, { "id": "rs1446692674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1446692674#frequency_tab" }, { "id": "rs1446692674", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1446692674" }, { "id": "rs1446692674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446692674" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4197, "end_pos": 4197, "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32041814", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y4197", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs756508366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756508366" }, { "id": "rs756508366", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756508366" }, { "id": "rs756508366", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756508366" } ], "glycoeffect": [], "start_pos": 4198, "end_pos": 4198, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041812", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4198", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs750822278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750822278" }, { "id": "rs750822278", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750822278" }, { "id": "rs750822278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750822278" } ], "glycoeffect": [], "start_pos": 4199, "end_pos": 4199, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041808", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582475981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582475981" }, { "id": "rs1582475981", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1582475981#frequency_tab" } ], "glycoeffect": [], "start_pos": 419, "end_pos": 419, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096597", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 41, "end_pos": 41, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098077", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P41", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs769084817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769084817" }, { "id": "rs769084817", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769084817" }, { "id": "rs769084817", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769084817#frequency_tab" }, { "id": "rs769084817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769084817" }, { "id": "rs769084817", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769084817" } ], "glycoeffect": [], "start_pos": 41, "end_pos": 41, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098077", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P41", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs769084817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769084817" }, { "id": "rs769084817", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769084817" }, { "id": "rs769084817", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769084817#frequency_tab" }, { "id": "rs769084817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769084817" } ], "glycoeffect": [], "start_pos": 41, "end_pos": 41, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098077", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P41", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780515011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780515011" }, { "id": "rs1780515011", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780515011" }, { "id": "rs1780515011", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780515011" } ], "glycoeffect": [], "start_pos": 41, "end_pos": 41, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098078", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P41", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1203694843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1203694843" }, { "id": "rs1203694843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1203694843" } ], "glycoeffect": [], "start_pos": 4201, "end_pos": 4201, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041801", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1481768364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1481768364" }, { "id": "rs1481768364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1481768364" } ], "glycoeffect": [], "start_pos": 4202, "end_pos": 4202, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041800", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1246195921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246195921" }, { "id": "rs1246195921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246195921" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4204, "end_pos": 4204, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041793", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y4204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1282148442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282148442" }, { "id": "rs1282148442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282148442" } ], "glycoeffect": [], "start_pos": 4205, "end_pos": 4205, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041791", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs200226242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200226242" }, { "id": "rs200226242", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200226242" }, { "id": "rs200226242", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200226242" }, { "id": "rs200226242", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200226242#frequency_tab" }, { "id": "rs200226242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200226242" }, { "id": "rs200226242", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200226242" } ], "glycoeffect": [], "start_pos": 420, "end_pos": 420, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096594", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V420", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs200226242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200226242" }, { "id": "rs200226242", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200226242" }, { "id": "rs200226242", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200226242" }, { "id": "rs200226242", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200226242#frequency_tab" }, { "id": "rs200226242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200226242" }, { "id": "rs200226242", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200226242" } ], "glycoeffect": [], "start_pos": 420, "end_pos": 420, "sequence_org": "V", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096594", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V420", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs780536658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780536658" }, { "id": "rs780536658", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780536658" }, { "id": "rs780536658", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780536658#frequency_tab" }, { "id": "rs780536658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780536658" }, { "id": "rs780536658", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780536658" } ], "glycoeffect": [], "start_pos": 420, "end_pos": 420, "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096595", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V420", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs780536658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780536658" }, { "id": "rs780536658", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780536658" }, { "id": "rs780536658", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780536658#frequency_tab" }, { "id": "rs780536658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780536658" }, { "id": "rs780536658", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780536658" } ], "glycoeffect": [], "start_pos": 420, "end_pos": 420, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096595", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V420", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1310319680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310319680" }, { "id": "rs1310319680", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1310319680#frequency_tab" }, { "id": "rs1310319680", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1310319680" } ], "glycoeffect": [], "start_pos": 4210, "end_pos": 4210, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041775", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H4210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs562162774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562162774" }, { "id": "rs562162774", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562162774" }, { "id": "rs562162774", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562162774" }, { "id": "rs562162774", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562162774" } ], "glycoeffect": [], "start_pos": 4211, "end_pos": 4211, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041772", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q4211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1478705257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478705257" }, { "id": "rs1478705257", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478705257#frequency_tab" }, { "id": "rs1478705257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478705257" } ], "glycoeffect": [], "start_pos": 4213, "end_pos": 4213, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041446", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V4213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1478705257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478705257" }, { "id": "rs1478705257", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478705257#frequency_tab" }, { "id": "rs1478705257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478705257" } ], "glycoeffect": [], "start_pos": 4213, "end_pos": 4213, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041446", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V4213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776380845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776380845" }, { "id": "rs1776380845", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776380845" } ], "glycoeffect": [], "start_pos": 4213, "end_pos": 4213, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041447", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V4213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244521853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244521853" }, { "id": "rs1244521853", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244521853#frequency_tab" }, { "id": "rs1244521853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244521853" } ], "glycoeffect": [], "start_pos": 4214, "end_pos": 4214, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041443", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1447226830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447226830" }, { "id": "rs1447226830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447226830" } ], "glycoeffect": [], "start_pos": 4215, "end_pos": 4215, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041440", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W4215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1197678718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197678718" }, { "id": "rs1197678718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197678718" } ], "glycoeffect": [], "start_pos": 4215, "end_pos": 4215, "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041441", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W4215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151878432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151878432" }, { "id": "rs2151878432", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151878432" } ], "glycoeffect": [], "start_pos": 4217, "end_pos": 4217, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041435", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H4217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768740465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768740465" }, { "id": "rs768740465", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768740465" }, { "id": "rs768740465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768740465" } ], "glycoeffect": [], "start_pos": 4222, "end_pos": 4222, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041420", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768740465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768740465" }, { "id": "rs768740465", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768740465" }, { "id": "rs768740465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768740465" } ], "glycoeffect": [], "start_pos": 4222, "end_pos": 4222, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041420", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E4222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1037135881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1037135881" }, { "id": "rs1037135881", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1037135881#frequency_tab" }, { "id": "rs1037135881", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1037135881" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4224, "end_pos": 4224, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041413", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1037135881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1037135881" }, { "id": "rs1037135881", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1037135881#frequency_tab" }, { "id": "rs1037135881", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1037135881" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4224, "end_pos": 4224, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32041413", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S4224", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1342899541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342899541" }, { "id": "rs1342899541", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1342899541#frequency_tab" }, { "id": "rs1342899541", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342899541" } ], "glycoeffect": [], "start_pos": 4226, "end_pos": 4226, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041408", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P4226", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749406624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749406624" }, { "id": "rs749406624", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749406624" }, { "id": "rs749406624", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749406624" } ], "glycoeffect": [], "start_pos": 4227, "end_pos": 4227, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041404", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F4227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780322872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780322872" }, { "id": "rs780322872", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780322872" }, { "id": "rs780322872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780322872" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4228, "end_pos": 4228, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041401", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776374068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776374068" }, { "id": "rs1776374068", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776374068" } ], "glycoeffect": [], "start_pos": 4230, "end_pos": 4230, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041395", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M4230", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1434817025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434817025" }, { "id": "rs1434817025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434817025" } ], "glycoeffect": [], "start_pos": 4233, "end_pos": 4233, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041386", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4233", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776373420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776373420" }, { "id": "rs1776373420", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776373420" } ], "glycoeffect": [], "start_pos": 4235, "end_pos": 4235, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041381", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776373093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776373093" }, { "id": "rs1776373093", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776373093" } ], "glycoeffect": [], "start_pos": 4235, "end_pos": 4235, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041380", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1178837280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178837280" }, { "id": "rs1178837280", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1178837280#frequency_tab" }, { "id": "rs1178837280", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178837280" } ], "glycoeffect": [], "start_pos": 4237, "end_pos": 4237, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041373", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F4237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746223901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746223901" }, { "id": "rs746223901", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746223901" }, { "id": "rs746223901", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746223901#frequency_tab" }, { "id": "rs746223901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746223901" } ], "glycoeffect": [], "start_pos": 4238, "end_pos": 4238, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041371", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746223901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746223901" }, { "id": "rs746223901", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746223901" }, { "id": "rs746223901", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746223901#frequency_tab" }, { "id": "rs746223901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746223901" } ], "glycoeffect": [], "start_pos": 4238, "end_pos": 4238, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041371", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R4238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776370541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776370541" }, { "id": "rs1776370541", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776370541" }, { "id": "rs1776370541", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1776370541" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4239, "end_pos": 4239, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041368", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4239", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1171501876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171501876" }, { "id": "rs1171501876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171501876" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4239, "end_pos": 4239, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041369", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4239", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751586423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751586423" }, { "id": "rs751586423", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751586423" }, { "id": "rs751586423", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751586423#frequency_tab" }, { "id": "rs751586423", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751586423" } ], "glycoeffect": [], "start_pos": 423, "end_pos": 423, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096585", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P423", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751586423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751586423" }, { "id": "rs751586423", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751586423" }, { "id": "rs751586423", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751586423#frequency_tab" }, { "id": "rs751586423", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751586423" } ], "glycoeffect": [], "start_pos": 423, "end_pos": 423, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096585", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P423", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757388892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757388892" }, { "id": "rs757388892", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757388892" }, { "id": "rs757388892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757388892" } ], "glycoeffect": [], "start_pos": 423, "end_pos": 423, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096586", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P423", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 423, "end_pos": 423, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096586", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P423", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs202247763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202247763" }, { "id": "rs202247763", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202247763" }, { "id": "rs202247763", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202247763" } ], "glycoeffect": [], "start_pos": 4241, "end_pos": 4241, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041362", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781449988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781449988" }, { "id": "rs781449988", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781449988" }, { "id": "rs781449988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781449988" } ], "glycoeffect": [], "start_pos": 4241, "end_pos": 4241, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041363", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202247763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202247763" }, { "id": "rs202247763", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202247763" }, { "id": "rs202247763", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202247763" } ], "glycoeffect": [], "start_pos": 4241, "end_pos": 4241, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041362", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A4241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1243552260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243552260" }, { "id": "rs1243552260", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243552260" } ], "glycoeffect": [], "start_pos": 4242, "end_pos": 4242, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041359", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1243552260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243552260" }, { "id": "rs1243552260", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243552260" } ], "glycoeffect": [], "start_pos": 4242, "end_pos": 4242, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041359", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763630327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763630327" }, { "id": "rs763630327", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763630327" }, { "id": "rs763630327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763630327" } ], "glycoeffect": [], "start_pos": 4242, "end_pos": 4242, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041360", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 4242, "end_pos": 4242, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32041360", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G4242", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1776367990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776367990" }, { "id": "rs1776367990", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776367990" } ], "glycoeffect": [], "start_pos": 4243, "end_pos": 4243, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041357", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4243", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs56148109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs56148109" }, { "id": "rs56148109", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs56148109" }, { "id": "rs56148109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs56148109" }, { "id": "rs56148109", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs56148109" } ], "glycoeffect": [], "start_pos": 4243, "end_pos": 4243, "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041356", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4243", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1230135757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230135757" }, { "id": "rs1230135757", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1230135757" } ], "glycoeffect": [], "start_pos": 4244, "end_pos": 4244, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041354", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752205332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752205332" }, { "id": "rs752205332", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752205332" }, { "id": "rs752205332", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752205332" } ], "glycoeffect": [], "start_pos": 4244, "end_pos": 4244, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041353", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1268495770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268495770" }, { "id": "rs1268495770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268495770" } ], "glycoeffect": [], "start_pos": 424, "end_pos": 424, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096582", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1268495770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268495770" }, { "id": "rs1268495770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268495770" } ], "glycoeffect": [], "start_pos": 424, "end_pos": 424, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096582", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765203258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765203258" }, { "id": "rs765203258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765203258" }, { "id": "rs765203258", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765203258" }, { "id": "rs765203258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765203258" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 425, "end_pos": 425, "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32096580", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "0.000060", "site_lbl": "Y425", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1780393500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780393500" }, { "id": "rs1780393500", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780393500" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 426, "end_pos": 426, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096577", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780392956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780392956" }, { "id": "rs1780392956", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780392956" } ], "glycoeffect": [], "start_pos": 428, "end_pos": 428, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096570", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T428", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1314290293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314290293" }, { "id": "rs1314290293", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1314290293#frequency_tab" }, { "id": "rs1314290293", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1314290293" } ], "glycoeffect": [], "start_pos": 429, "end_pos": 429, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096568", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D429", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1310999737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310999737" }, { "id": "rs1310999737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1310999737#frequency_tab" } ], "glycoeffect": [], "start_pos": 42, "end_pos": 42, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098075", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 42, "end_pos": 42, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098075", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q42", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1331733789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331733789" }, { "id": "rs1331733789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1331733789#frequency_tab" }, { "id": "rs1331733789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1331733789" } ], "glycoeffect": [], "start_pos": 430, "end_pos": 430, "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096563", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C430", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1402172673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402172673" }, { "id": "rs1402172673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402172673" } ], "glycoeffect": [], "start_pos": 430, "end_pos": 430, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096564", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C430", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766185519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766185519" }, { "id": "rs766185519", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766185519" }, { "id": "rs766185519", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766185519" }, { "id": "rs766185519", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766185519#frequency_tab" }, { "id": "rs766185519", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766185519" } ], "glycoeffect": [], "start_pos": 431, "end_pos": 431, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096562", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G431", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1276343973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276343973" }, { "id": "rs1276343973", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1276343973#frequency_tab" }, { "id": "rs1276343973", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276343973" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 432, "end_pos": 432, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096558", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S432", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs1276343973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276343973" }, { "id": "rs1276343973", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1276343973#frequency_tab" }, { "id": "rs1276343973", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276343973" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 432, "end_pos": 432, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096558", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S432", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 433, "end_pos": 433, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096555", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R433", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1028680543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1028680543" }, { "id": "rs1028680543", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1028680543#frequency_tab" }, { "id": "rs1028680543", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1028680543" } ], "glycoeffect": [], "start_pos": 434, "end_pos": 434, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096553", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A434", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1028680543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1028680543" }, { "id": "rs1028680543", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1028680543#frequency_tab" }, { "id": "rs1028680543", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1028680543" }, { "id": "rs1028680543", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1028680543" } ], "glycoeffect": [], "start_pos": 434, "end_pos": 434, "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096553", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A434", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 435, "end_pos": 435, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096549", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "C435", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1183489286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1183489286" }, { "id": "rs1183489286", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1183489286" } ], "glycoeffect": [], "start_pos": 436, "end_pos": 436, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096546", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P436", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 437, "end_pos": 437, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096544", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R437", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1220342234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220342234" }, { "id": "rs1220342234", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1220342234" } ], "glycoeffect": [], "start_pos": 437, "end_pos": 437, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096544", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs761408641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761408641" }, { "id": "rs761408641", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761408641" }, { "id": "rs761408641", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761408641" }, { "id": "rs761408641", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs761408641" } ], "glycoeffect": [], "start_pos": 437, "end_pos": 437, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096543", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R437", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1780388397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780388397" }, { "id": "rs1780388397", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780388397#frequency_tab" }, { "id": "rs1780388397", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780388397" } ], "glycoeffect": [], "start_pos": 438, "end_pos": 438, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096540", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D438", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1671698973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1671698973" }, { "id": "rs1671698973", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1671698973#frequency_tab" } ], "glycoeffect": [], "start_pos": 438, "end_pos": 438, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096541", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D438", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1240445626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240445626" }, { "id": "rs1240445626", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1240445626" } ], "glycoeffect": [], "start_pos": 439, "end_pos": 439, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096537", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C439", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483772846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483772846" } ], "glycoeffect": [], "start_pos": 43, "end_pos": 43, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098072", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P43", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749808879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749808879" }, { "id": "rs749808879", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749808879" }, { "id": "rs749808879", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749808879#frequency_tab" }, { "id": "rs749808879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749808879" } ], "glycoeffect": [], "start_pos": 43, "end_pos": 43, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098071", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P43", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1201314082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201314082" }, { "id": "rs1201314082", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1201314082" } ], "glycoeffect": [], "start_pos": 440, "end_pos": 440, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096533", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R440", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 442, "end_pos": 442, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096529", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R442", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1179577875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179577875" }, { "id": "rs1179577875", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1179577875" }, { "id": "rs1179577875", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179577875" } ], "glycoeffect": [], "start_pos": 443, "end_pos": 443, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096526", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G443", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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": "rs1780386610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780386610" }, { "id": "rs1780386610", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780386610" } ], "glycoeffect": [], "start_pos": 445, "end_pos": 445, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096520", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C445", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211780237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211780237" }, { "id": "rs1211780237", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211780237" } ], "glycoeffect": [], "start_pos": 446, "end_pos": 446, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096515", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E446", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs536601819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536601819" } ], "glycoeffect": [], "start_pos": 446, "end_pos": 446, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096517", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E446", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs536601819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536601819" }, { "id": "rs536601819", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536601819" }, { "id": "rs536601819", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs536601819#frequency_tab" }, { "id": "rs536601819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536601819" } ], "glycoeffect": [], "start_pos": 446, "end_pos": 446, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096517", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E446", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159596260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159596260" }, { "id": "rs1159596260", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1159596260" } ], "glycoeffect": [], "start_pos": 447, "end_pos": 447, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096514", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769328541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769328541" }, { "id": "rs769328541", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769328541" }, { "id": "rs769328541", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769328541#frequency_tab" }, { "id": "rs769328541", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769328541" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096511", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1291009967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291009967" }, { "id": "rs1291009967", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1291009967" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096510", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769328541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769328541" }, { "id": "rs769328541", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769328541" }, { "id": "rs769328541", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769328541#frequency_tab" }, { "id": "rs769328541", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769328541" } ], "glycoeffect": [], "start_pos": 448, "end_pos": 448, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096511", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1351160342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351160342" }, { "id": "rs1351160342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351160342" } ], "glycoeffect": [], "start_pos": 449, "end_pos": 449, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096508", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V449", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 44, "end_pos": 44, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098068", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G44", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1290324165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1290324165" }, { "id": "rs1290324165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1290324165" } ], "glycoeffect": [], "start_pos": 44, "end_pos": 44, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098068", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G44", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375984855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375984855" }, { "id": "rs375984855", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375984855" }, { "id": "rs375984855", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375984855" }, { "id": "rs375984855", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375984855#frequency_tab" }, { "id": "rs375984855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375984855" } ], "glycoeffect": [], "start_pos": 452, "end_pos": 452, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096498", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "C452", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1161106376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161106376" }, { "id": "rs1161106376", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1161106376" }, { "id": "rs1161106376", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1161106376" } ], "glycoeffect": [], "start_pos": 453, "end_pos": 453, "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096496", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N453", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs547835381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547835381" }, { "id": "rs547835381", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547835381" }, { "id": "rs547835381", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547835381" }, { "id": "rs547835381", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs547835381#frequency_tab" }, { "id": "rs547835381", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547835381" } ], "glycoeffect": [], "start_pos": 453, "end_pos": 453, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096495", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N453", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746178595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746178595" }, { "id": "rs746178595", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746178595" }, { "id": "rs746178595", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746178595" }, { "id": "rs746178595", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746178595#frequency_tab" }, { "id": "rs746178595", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746178595" } ], "glycoeffect": [], "start_pos": 454, "end_pos": 454, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096492", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A454", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746178595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746178595" }, { "id": "rs746178595", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746178595" }, { "id": "rs746178595", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746178595" }, { "id": "rs746178595", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746178595#frequency_tab" }, { "id": "rs746178595", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746178595" } ], "glycoeffect": [], "start_pos": 454, "end_pos": 454, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096492", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A454", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770197208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770197208" }, { "id": "rs770197208", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770197208" }, { "id": "rs770197208", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770197208" } ], "glycoeffect": [], "start_pos": 454, "end_pos": 454, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096493", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A454", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746178595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746178595" }, { "id": "rs746178595", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746178595" }, { "id": "rs746178595", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746178595" }, { "id": "rs746178595", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746178595#frequency_tab" }, { "id": "rs746178595", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746178595" } ], "glycoeffect": [], "start_pos": 454, "end_pos": 454, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096492", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A454", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781498063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781498063" }, { "id": "rs781498063", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781498063" }, { "id": "rs781498063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781498063#frequency_tab" }, { "id": "rs781498063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781498063" } ], "glycoeffect": [], "start_pos": 455, "end_pos": 455, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096489", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781498063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781498063" }, { "id": "rs781498063", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781498063" }, { "id": "rs781498063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781498063#frequency_tab" }, { "id": "rs781498063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781498063" }, { "id": "rs781498063", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781498063" } ], "glycoeffect": [], "start_pos": 455, "end_pos": 455, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096489", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G455", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs781498063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781498063" }, { "id": "rs781498063", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781498063" }, { "id": "rs781498063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781498063#frequency_tab" }, { "id": "rs781498063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781498063" } ], "glycoeffect": [], "start_pos": 455, "end_pos": 455, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096489", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441187119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441187119" }, { "id": "rs1441187119", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1441187119#frequency_tab" }, { "id": "rs1441187119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441187119" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 456, "end_pos": 456, "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096486", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y456", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382638749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382638749" }, { "id": "rs1382638749", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1382638749#frequency_tab" }, { "id": "rs1382638749", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382638749" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 457, "end_pos": 457, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096484", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757394616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757394616" }, { "id": "rs757394616", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757394616" }, { "id": "rs757394616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757394616" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 457, "end_pos": 457, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096483", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469943517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469943517" }, { "id": "rs1469943517", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469943517#frequency_tab" }, { "id": "rs1469943517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469943517" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 457, "end_pos": 457, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096482", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747129524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747129524" }, { "id": "rs747129524", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747129524" }, { "id": "rs747129524", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747129524#frequency_tab" }, { "id": "rs747129524", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747129524" } ], "glycoeffect": [], "start_pos": 458, "end_pos": 458, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096481", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483758635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483758635" } ], "glycoeffect": [], "start_pos": 459, "end_pos": 459, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096478", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E459", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1247295789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247295789" }, { "id": "rs1247295789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1247295789#frequency_tab" } ], "glycoeffect": [], "start_pos": 45, "end_pos": 45, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098065", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G45", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372425177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372425177" }, { "id": "rs372425177", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372425177#frequency_tab" } ], "glycoeffect": [], "start_pos": 460, "end_pos": 460, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096473", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D460", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1490561407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1490561407" }, { "id": "rs1490561407", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1490561407" } ], "glycoeffect": [], "start_pos": 460, "end_pos": 460, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096475", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D460", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127290336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127290336" }, { "id": "rs2127290336", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127290336" } ], "glycoeffect": [], "start_pos": 461, "end_pos": 461, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096472", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780379639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780379639" }, { "id": "rs1780379639", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780379639" } ], "glycoeffect": [], "start_pos": 461, "end_pos": 461, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096471", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355788291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355788291" }, { "id": "rs1355788291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355788291" } ], "glycoeffect": [], "start_pos": 462, "end_pos": 462, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096468", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G462", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1220267330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220267330" }, { "id": "rs1220267330", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1220267330" }, { "id": "rs1220267330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220267330" } ], "glycoeffect": [], "start_pos": 462, "end_pos": 462, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32096469", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "0.000001382", "site_lbl": "G462", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs1780378385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780378385" }, { "id": "rs1780378385", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780378385#frequency_tab" } ], "glycoeffect": [], "start_pos": 463, "end_pos": 463, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096466", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780378385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780378385" }, { "id": "rs1780378385", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780378385#frequency_tab" } ], "glycoeffect": [], "start_pos": 463, "end_pos": 463, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096466", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780378168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780378168" }, { "id": "rs1780378168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780378168" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 465, "end_pos": 465, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096459", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S465", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780377934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780377934" }, { "id": "rs1780377934", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780377934" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 465, "end_pos": 465, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096458", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S465", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483758453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483758453" } ], "glycoeffect": [], "start_pos": 466, "end_pos": 466, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096456", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C466", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1286639481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286639481" }, { "id": "rs1286639481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286639481" } ], "glycoeffect": [], "start_pos": 467, "end_pos": 467, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096453", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P467", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753788627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753788627" }, { "id": "rs753788627", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753788627" }, { "id": "rs753788627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753788627#frequency_tab" }, { "id": "rs753788627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753788627" } ], "glycoeffect": [], "start_pos": 468, "end_pos": 468, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096451", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G468", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 468, "end_pos": 468, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32042550", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G468", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 468, "end_pos": 468, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096450", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G468", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs755972376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755972376" }, { "id": "rs755972376", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755972376" }, { "id": "rs755972376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755972376" } ], "glycoeffect": [], "start_pos": 469, "end_pos": 469, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096447", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779793236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779793236" }, { "id": "rs779793236", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779793236" }, { "id": "rs779793236", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779793236#frequency_tab" }, { "id": "rs779793236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779793236" } ], "glycoeffect": [], "start_pos": 469, "end_pos": 469, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096448", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779793236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779793236" }, { "id": "rs779793236", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779793236" }, { "id": "rs779793236", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779793236#frequency_tab" }, { "id": "rs779793236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779793236" } ], "glycoeffect": [], "start_pos": 469, "end_pos": 469, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096448", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127294403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127294403" }, { "id": "rs2127294403", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127294403" } ], "glycoeffect": [], "start_pos": 46, "end_pos": 46, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098062", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H46", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 46, "end_pos": 46, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098063", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H46", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 470, "end_pos": 470, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096445", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "C470", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" ] }, { "evidence": [ { "id": "rs999276211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs999276211" }, { "id": "rs999276211", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs999276211#frequency_tab" }, { "id": "rs999276211", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs999276211" } ], "glycoeffect": [], "start_pos": 470, "end_pos": 470, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096444", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C470", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1436787945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1436787945" }, { "id": "rs1436787945", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1436787945" } ], "glycoeffect": [], "start_pos": 471, "end_pos": 471, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096442", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755959617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755959617" } ], "glycoeffect": [], "start_pos": 471, "end_pos": 471, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096442_32096444", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R471", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1384007956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384007956" }, { "id": "rs1384007956", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384007956#frequency_tab" }, { "id": "rs1384007956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384007956" } ], "glycoeffect": [], "start_pos": 473, "end_pos": 473, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096435", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R473", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1384007956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384007956" }, { "id": "rs1384007956", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384007956#frequency_tab" }, { "id": "rs1384007956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384007956" } ], "glycoeffect": [], "start_pos": 473, "end_pos": 473, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096435", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R473", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780375586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780375586" }, { "id": "rs1780375586", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780375586#frequency_tab" } ], "glycoeffect": [], "start_pos": 473, "end_pos": 473, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096436", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R473", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562875640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562875640" }, { "id": "rs1562875640", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562875640" } ], "glycoeffect": [], "start_pos": 474, "end_pos": 474, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096433", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G474", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 474, "end_pos": 474, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096432", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G474", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1020067932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1020067932" }, { "id": "rs1020067932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1020067932#frequency_tab" } ], "glycoeffect": [], "start_pos": 474, "end_pos": 474, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096432", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G474", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750137012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750137012" }, { "id": "rs750137012", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750137012" }, { "id": "rs750137012", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750137012#frequency_tab" }, { "id": "rs750137012", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750137012" }, { "id": "rs750137012", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750137012" } ], "glycoeffect": [], "start_pos": 475, "end_pos": 475, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096430", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R475", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1401291892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401291892" }, { "id": "rs1401291892", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1401291892#frequency_tab" }, { "id": "rs1401291892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401291892" } ], "glycoeffect": [], "start_pos": 475, "end_pos": 475, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096429", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R475", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1401291892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401291892" }, { "id": "rs1401291892", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1401291892#frequency_tab" }, { "id": "rs1401291892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401291892" } ], "glycoeffect": [], "start_pos": 475, "end_pos": 475, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096429", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R475", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750137012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750137012" }, { "id": "rs750137012", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750137012" }, { "id": "rs750137012", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750137012#frequency_tab" }, { "id": "rs750137012", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750137012" } ], "glycoeffect": [], "start_pos": 475, "end_pos": 475, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096430", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R475", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 476, "end_pos": 476, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096426", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "C476", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1780373465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780373465" }, { "id": "rs1780373465", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780373465" } ], "glycoeffect": [], "start_pos": 476, "end_pos": 476, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096427", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C476", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1160427410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160427410" }, { "id": "rs1160427410", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160427410" } ], "glycoeffect": [], "start_pos": 476, "end_pos": 476, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096426", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C476", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1174639183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1174639183" }, { "id": "rs1174639183", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1174639183" }, { "id": "rs1174639183", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1174639183" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 478, "end_pos": 478, "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096421", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S478", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1480889874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480889874" }, { "id": "rs1480889874", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480889874" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 478, "end_pos": 478, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096420", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S478", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1480889874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480889874" }, { "id": "rs1480889874", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480889874" } ], "glycoeffect": [], "start_pos": 478, "end_pos": 478, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096420", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S478", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1197435492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197435492" }, { "id": "rs1197435492", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197435492" } ], "glycoeffect": [], "start_pos": 479, "end_pos": 479, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096418", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G479", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs902363915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902363915" }, { "id": "rs902363915", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs902363915#frequency_tab" }, { "id": "rs902363915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs902363915" }, { "id": "rs902363915", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs902363915" } ], "glycoeffect": [], "start_pos": 480, "end_pos": 480, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096415", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R480", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs767248359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767248359" }, { "id": "rs767248359", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767248359" }, { "id": "rs767248359", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767248359#frequency_tab" }, { "id": "rs767248359", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767248359" } ], "glycoeffect": [], "start_pos": 480, "end_pos": 480, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096414", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R480", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780370734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780370734" }, { "id": "rs1780370734", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780370734" } ], "glycoeffect": [], "start_pos": 481, "end_pos": 481, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096412", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C481", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582474854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582474854" }, { "id": "rs1582474854", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582474854" } ], "glycoeffect": [], "start_pos": 481, "end_pos": 481, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096410", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C481", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1378870044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378870044" }, { "id": "rs1378870044", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1378870044#frequency_tab" } ], "glycoeffect": [], "start_pos": 482, "end_pos": 482, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096407", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M482", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761528068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761528068" }, { "id": "rs761528068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761528068" }, { "id": "rs761528068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761528068#frequency_tab" }, { "id": "rs761528068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761528068" } ], "glycoeffect": [], "start_pos": 482, "end_pos": 482, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096409", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M482", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761528068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761528068" }, { "id": "rs761528068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761528068" }, { "id": "rs761528068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761528068#frequency_tab" }, { "id": "rs761528068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761528068" } ], "glycoeffect": [], "start_pos": 482, "end_pos": 482, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096409", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M482", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1280475668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280475668" }, { "id": "rs1280475668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280475668" } ], "glycoeffect": [], "start_pos": 484, "end_pos": 484, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096401", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W484", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs1219529554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1219529554" }, { "id": "rs1219529554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1219529554" } ], "glycoeffect": [], "start_pos": 485, "end_pos": 485, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096400", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P485", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280968762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280968762" }, { "id": "rs1280968762", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1280968762#frequency_tab" }, { "id": "rs1280968762", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280968762" } ], "glycoeffect": [], "start_pos": 486, "end_pos": 486, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096397", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G486", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1417863882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1417863882" }, { "id": "rs1417863882", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1417863882#frequency_tab" }, { "id": "rs1417863882", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1417863882" } ], "glycoeffect": [], "start_pos": 486, "end_pos": 486, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096396", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G486", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 487, "end_pos": 487, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096393", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y487", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1780368296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780368296" }, { "id": "rs1780368296", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780368296#frequency_tab" }, { "id": "rs1780368296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780368296" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 488, "end_pos": 488, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096390", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T488", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1014361614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1014361614" }, { "id": "rs1014361614", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1014361614#frequency_tab" } ], "glycoeffect": [], "start_pos": 489, "end_pos": 489, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096387", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G489", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483757719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483757719" } ], "glycoeffect": [], "start_pos": 489, "end_pos": 489, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096388", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G489", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1412694151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412694151" }, { "id": "rs1412694151", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412694151#frequency_tab" }, { "id": "rs1412694151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412694151" } ], "glycoeffect": [], "start_pos": 48, "end_pos": 48, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098056", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V48", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769465899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769465899" }, { "id": "rs769465899", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs769465899" } ], "glycoeffect": [], "start_pos": 48, "end_pos": 48, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098057", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V48", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763709773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763709773" }, { "id": "rs763709773", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763709773" }, { "id": "rs763709773", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763709773#frequency_tab" }, { "id": "rs763709773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763709773" } ], "glycoeffect": [], "start_pos": 490, "end_pos": 490, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096385", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R490", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs118086587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118086587" }, { "id": "rs118086587", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs118086587" }, { "id": "rs118086587", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118086587" }, { "id": "rs118086587", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs118086587#frequency_tab" }, { "id": "rs118086587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs118086587" }, { "id": "rs118086587", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs118086587" } ], "glycoeffect": [], "start_pos": 490, "end_pos": 490, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096384", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R490", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs776095619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776095619" } ], "glycoeffect": [], "start_pos": 491, "end_pos": 491, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096380", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D491", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 491, "end_pos": 491, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096382", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D491", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1430685402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430685402" }, { "id": "rs1430685402", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1430685402" } ], "glycoeffect": [], "start_pos": 492, "end_pos": 492, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096379", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C492", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1336576530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1336576530" }, { "id": "rs1336576530", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1336576530" } ], "glycoeffect": [], "start_pos": 493, "end_pos": 493, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096375", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G493", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127289760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127289760" }, { "id": "rs2127289760", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127289760" } ], "glycoeffect": [], "start_pos": 493, "end_pos": 493, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096376", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G493", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770149701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770149701" }, { "id": "rs770149701", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770149701" }, { "id": "rs770149701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770149701" } ], "glycoeffect": [], "start_pos": 494, "end_pos": 494, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096373", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T494", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1213285476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213285476" }, { "id": "rs1213285476", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213285476" } ], "glycoeffect": [], "start_pos": 496, "end_pos": 496, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096367", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A496", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213285476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213285476" } ], "glycoeffect": [], "start_pos": 496, "end_pos": 496, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096367", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A496", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213285476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213285476" }, { "id": "rs1213285476", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213285476" } ], "glycoeffect": [], "start_pos": 496, "end_pos": 496, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096367", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A496", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127289678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127289678" }, { "id": "rs2127289678", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127289678" } ], "glycoeffect": [], "start_pos": 497, "end_pos": 497, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096363", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1478895311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478895311" }, { "id": "rs1478895311", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478895311#frequency_tab" }, { "id": "rs1478895311", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478895311" } ], "glycoeffect": [], "start_pos": 498, "end_pos": 498, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096360", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1478895311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478895311" }, { "id": "rs1478895311", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478895311#frequency_tab" }, { "id": "rs1478895311", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478895311" } ], "glycoeffect": [], "start_pos": 498, "end_pos": 498, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096360", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1330003639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330003639" }, { "id": "rs1330003639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330003639" } ], "glycoeffect": [], "start_pos": 498, "end_pos": 498, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096361", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771249673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771249673" }, { "id": "rs771249673", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771249673" }, { "id": "rs771249673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771249673" } ], "glycoeffect": [], "start_pos": 499, "end_pos": 499, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096357", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G499", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2127289626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127289626" }, { "id": "rs2127289626", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127289626" } ], "glycoeffect": [], "start_pos": 499, "end_pos": 499, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096358", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G499", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 49, "end_pos": 49, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098054", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G49", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs772146212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772146212" }, { "id": "rs772146212", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772146212" }, { "id": "rs772146212", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772146212" } ], "glycoeffect": [], "start_pos": 500, "end_pos": 500, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096353", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1239116042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239116042" }, { "id": "rs1239116042", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1239116042#frequency_tab" }, { "id": "rs1239116042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239116042" } ], "glycoeffect": [], "start_pos": 500, "end_pos": 500, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096354", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777918124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777918124" }, { "id": "rs777918124", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777918124" }, { "id": "rs777918124", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777918124#frequency_tab" }, { "id": "rs777918124", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777918124" } ], "glycoeffect": [], "start_pos": 500, "end_pos": 500, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096355", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1239116042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239116042" }, { "id": "rs1239116042", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1239116042#frequency_tab" }, { "id": "rs1239116042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239116042" } ], "glycoeffect": [], "start_pos": 500, "end_pos": 500, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096354", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777918124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777918124" }, { "id": "rs777918124", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777918124" }, { "id": "rs777918124", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777918124#frequency_tab" }, { "id": "rs777918124", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777918124" } ], "glycoeffect": [], "start_pos": 500, "end_pos": 500, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096355", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D500", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780362994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780362994" }, { "id": "rs1780362994", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780362994" } ], "glycoeffect": [], "start_pos": 501, "end_pos": 501, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096352", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C501", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483757143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483757143" } ], "glycoeffect": [], "start_pos": 501, "end_pos": 501, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096351", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C501", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127289529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127289529" }, { "id": "rs2127289529", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127289529" } ], "glycoeffect": [], "start_pos": 502, "end_pos": 502, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096349", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R502", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780362584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780362584" }, { "id": "rs1780362584", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780362584#frequency_tab" } ], "glycoeffect": [], "start_pos": 502, "end_pos": 502, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096348", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R502", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127289485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127289485" }, { "id": "rs2127289485", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127289485" } ], "glycoeffect": [], "start_pos": 503, "end_pos": 503, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096345", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G503", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780362360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780362360" }, { "id": "rs1780362360", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780362360" } ], "glycoeffect": [], "start_pos": 503, "end_pos": 503, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096346", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G503", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780362360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780362360" }, { "id": "rs1780362360", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780362360" } ], "glycoeffect": [], "start_pos": 503, "end_pos": 503, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096346", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G503", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 504, "end_pos": 504, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096343", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R504", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1780362111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780362111" }, { "id": "rs1780362111", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780362111" }, { "id": "rs1780362111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780362111" } ], "glycoeffect": [], "start_pos": 504, "end_pos": 504, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096343", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R504", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 505, "end_pos": 505, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096339", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G505", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1370893231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370893231" }, { "id": "rs1370893231", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1370893231#frequency_tab" } ], "glycoeffect": [], "start_pos": 505, "end_pos": 505, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096340", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867372806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867372806" }, { "id": "rs867372806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867372806#frequency_tab" }, { "id": "rs867372806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867372806" } ], "glycoeffect": [], "start_pos": 506, "end_pos": 506, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096336", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R506", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867372806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867372806" }, { "id": "rs867372806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867372806#frequency_tab" }, { "id": "rs867372806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867372806" } ], "glycoeffect": [], "start_pos": 506, "end_pos": 506, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096336", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R506", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867372806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867372806" }, { "id": "rs867372806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867372806#frequency_tab" }, { "id": "rs867372806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867372806" } ], "glycoeffect": [], "start_pos": 506, "end_pos": 506, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096336", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R506", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1372882593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372882593" }, { "id": "rs1372882593", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372882593" } ], "glycoeffect": [], "start_pos": 508, "end_pos": 508, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096330", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V508", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1335911976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335911976" }, { "id": "rs1335911976", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1335911976#frequency_tab" }, { "id": "rs1335911976", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335911976" } ], "glycoeffect": [], "start_pos": 508, "end_pos": 508, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096331", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V508", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867174342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867174342" }, { "id": "rs867174342", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867174342" } ], "glycoeffect": [], "start_pos": 509, "end_pos": 509, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096328", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D509", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs576973691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576973691" }, { "id": "rs576973691", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs576973691" }, { "id": "rs576973691", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576973691" }, { "id": "rs576973691", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs576973691#frequency_tab" }, { "id": "rs576973691", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs576973691" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098051", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A50", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs576973691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576973691" }, { "id": "rs576973691", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs576973691" }, { "id": "rs576973691", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576973691" }, { "id": "rs576973691", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs576973691#frequency_tab" }, { "id": "rs576973691", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs576973691" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098051", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A50", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098051", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A50", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098050", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A50", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1294239517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294239517" }, { "id": "rs1294239517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294239517" } ], "glycoeffect": [], "start_pos": 511, "end_pos": 511, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096322", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs204896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs204896" }, { "id": "rs204896", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs204896" }, { "id": "rs204896", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs204896" }, { "id": "rs204896", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs204896#frequency_tab" }, { "id": "rs204896", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs204896" }, { "id": "rs204896", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs204896" } ], "glycoeffect": [], "start_pos": 511, "end_pos": 511, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096321", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R511", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs204896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs204896" }, { "id": "rs204896", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs204896" }, { "id": "rs204896", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs204896" }, { "id": "rs204896", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs204896#frequency_tab" }, { "id": "rs204896", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs204896" } ], "glycoeffect": [], "start_pos": 511, "end_pos": 511, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096321", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1294239517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294239517" }, { "id": "rs1294239517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294239517" } ], "glycoeffect": [], "start_pos": 511, "end_pos": 511, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096322", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1321743349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321743349" }, { "id": "rs1321743349", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1321743349#frequency_tab" }, { "id": "rs1321743349", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321743349" } ], "glycoeffect": [], "start_pos": 512, "end_pos": 512, "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096319", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C512", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs940810706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940810706" }, { "id": "rs940810706", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs940810706#frequency_tab" } ], "glycoeffect": [], "start_pos": 512, "end_pos": 512, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096317", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C512", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs750273126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750273126" }, { "id": "rs750273126", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750273126" }, { "id": "rs750273126", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750273126#frequency_tab" }, { "id": "rs750273126", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750273126" } ], "glycoeffect": [], "start_pos": 513, "end_pos": 513, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096316", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V513", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs750273126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750273126" }, { "id": "rs750273126", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750273126" }, { "id": "rs750273126", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750273126#frequency_tab" }, { "id": "rs750273126", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750273126" } ], "glycoeffect": [], "start_pos": 513, "end_pos": 513, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096316", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V513", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1453892389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453892389" }, { "id": "rs1453892389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453892389" } ], "glycoeffect": [], "start_pos": 514, "end_pos": 514, "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096311", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1039452706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039452706" }, { "id": "rs1039452706", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1039452706" } ], "glycoeffect": [], "start_pos": 514, "end_pos": 514, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096312", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780357357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780357357" }, { "id": "rs1780357357", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780357357#frequency_tab" }, { "id": "rs1780357357", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780357357" } ], "glycoeffect": [], "start_pos": 515, "end_pos": 515, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096310", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N515", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1335090409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335090409" }, { "id": "rs1335090409", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335090409" } ], "glycoeffect": [], "start_pos": 515, "end_pos": 515, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096308", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N515", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780846101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780846101" }, { "id": "rs780846101", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780846101" }, { "id": "rs780846101", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780846101#frequency_tab" }, { "id": "rs780846101", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780846101" } ], "glycoeffect": [], "start_pos": 515, "end_pos": 515, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096309", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N515", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs944694191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs944694191" }, { "id": "rs944694191", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs944694191#frequency_tab" }, { "id": "rs944694191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs944694191" } ], "glycoeffect": [], "start_pos": 516, "end_pos": 516, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096306", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P516", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs944694191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs944694191" }, { "id": "rs944694191", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs944694191#frequency_tab" }, { "id": "rs944694191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs944694191" } ], "glycoeffect": [], "start_pos": 516, "end_pos": 516, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096306", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P516", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs908053197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs908053197" }, { "id": "rs908053197", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs908053197#frequency_tab" } ], "glycoeffect": [], "start_pos": 516, "end_pos": 516, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096307", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P516", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs531495408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531495408" }, { "id": "rs531495408", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531495408" }, { "id": "rs531495408", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531495408" }, { "id": "rs531495408", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs531495408" } ], "glycoeffect": [], "start_pos": 517, "end_pos": 517, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096303", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G517", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780353498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780353498" }, { "id": "rs1780353498", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780353498" } ], "glycoeffect": [], "start_pos": 518, "end_pos": 518, "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096301", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483756480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483756480" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 519, "end_pos": 519, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096297", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T519", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 519, "end_pos": 519, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096298", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T519", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1780512328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780512328" }, { "id": "rs1780512328", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780512328#frequency_tab" } ], "glycoeffect": [], "start_pos": 51, "end_pos": 51, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098047", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781290505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781290505" }, { "id": "rs781290505", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781290505" }, { "id": "rs781290505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781290505" } ], "glycoeffect": [], "start_pos": 51, "end_pos": 51, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098048", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780353088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780353088" }, { "id": "rs1780353088", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780353088#frequency_tab" } ], "glycoeffect": [], "start_pos": 520, "end_pos": 520, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096295", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G520", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1042642215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1042642215" }, { "id": "rs1042642215", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1042642215" }, { "id": "rs1042642215", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1042642215" } ], "glycoeffect": [], "start_pos": 520, "end_pos": 520, "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096294", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G520", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs763797901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763797901" }, { "id": "rs763797901", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763797901" }, { "id": "rs763797901", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763797901#frequency_tab" }, { "id": "rs763797901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763797901" } ], "glycoeffect": [], "start_pos": 522, "end_pos": 522, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096288", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D522", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780352340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780352340" }, { "id": "rs1780352340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780352340" } ], "glycoeffect": [], "start_pos": 522, "end_pos": 522, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096289", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D522", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763797901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763797901" }, { "id": "rs763797901", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763797901" }, { "id": "rs763797901", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763797901#frequency_tab" }, { "id": "rs763797901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763797901" } ], "glycoeffect": [], "start_pos": 522, "end_pos": 522, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096288", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D522", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752125621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752125621" }, { "id": "rs752125621", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752125621" }, { "id": "rs752125621", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752125621#frequency_tab" }, { "id": "rs752125621", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752125621" } ], "glycoeffect": [], "start_pos": 523, "end_pos": 523, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096285", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C523", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483756372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483756372" } ], "glycoeffect": [], "start_pos": 523, "end_pos": 523, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096286", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C523", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1250403352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250403352" }, { "id": "rs1250403352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250403352" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 525, "end_pos": 525, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096280", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1201914219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201914219" }, { "id": "rs1201914219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201914219" } ], "glycoeffect": [], "start_pos": 525, "end_pos": 525, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096279", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765809800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765809800" }, { "id": "rs765809800", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765809800" }, { "id": "rs765809800", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765809800" } ], "glycoeffect": [], "start_pos": 526, "end_pos": 526, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096277", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R526", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1247381450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247381450" }, { "id": "rs1247381450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1247381450#frequency_tab" }, { "id": "rs1247381450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1247381450" }, { "id": "rs1247381450", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1247381450" } ], "glycoeffect": [], "start_pos": 526, "end_pos": 526, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096276", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R526", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs759953982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759953982" }, { "id": "rs759953982", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759953982" }, { "id": "rs759953982", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759953982#frequency_tab" }, { "id": "rs759953982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759953982" } ], "glycoeffect": [], "start_pos": 527, "end_pos": 527, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096274", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R527", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs867144391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867144391" }, { "id": "rs867144391", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867144391" } ], "glycoeffect": [], "start_pos": 527, "end_pos": 527, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096273", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R527", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs560811394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560811394" }, { "id": "rs560811394", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560811394" }, { "id": "rs560811394", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs560811394#frequency_tab" }, { "id": "rs560811394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs560811394" } ], "glycoeffect": [], "start_pos": 528, "end_pos": 528, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096270", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "C528", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757476937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757476937" }, { "id": "rs757476937", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757476937" }, { "id": "rs757476937", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757476937#frequency_tab" }, { "id": "rs757476937", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757476937" } ], "glycoeffect": [], "start_pos": 52, "end_pos": 52, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098045", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V52", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868431028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868431028" }, { "id": "rs868431028", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs868431028#frequency_tab" }, { "id": "rs868431028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs868431028" }, { "id": "rs868431028", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs868431028" } ], "glycoeffect": [], "start_pos": 530, "end_pos": 530, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096265", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G530", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs865850910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865850910" }, { "id": "rs865850910", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs865850910" } ], "glycoeffect": [], "start_pos": 530, "end_pos": 530, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096264", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G530", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868431028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868431028" }, { "id": "rs868431028", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs868431028#frequency_tab" }, { "id": "rs868431028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs868431028" } ], "glycoeffect": [], "start_pos": 530, "end_pos": 530, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096265", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G530", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868198136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868198136" }, { "id": "rs868198136", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs868198136" } ], "glycoeffect": [], "start_pos": 531, "end_pos": 531, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096260", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771301786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771301786" }, { "id": "rs771301786", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771301786" }, { "id": "rs771301786", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771301786#frequency_tab" }, { "id": "rs771301786", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771301786" } ], "glycoeffect": [], "start_pos": 531, "end_pos": 531, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096262", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771301786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771301786" }, { "id": "rs771301786", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771301786" }, { "id": "rs771301786", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771301786#frequency_tab" }, { "id": "rs771301786", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771301786" } ], "glycoeffect": [], "start_pos": 531, "end_pos": 531, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096262", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780348475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780348475" }, { "id": "rs1780348475", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780348475" } ], "glycoeffect": [], "start_pos": 532, "end_pos": 532, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096259", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C532", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs915406674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915406674" }, { "id": "rs915406674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915406674" } ], "glycoeffect": [], "start_pos": 533, "end_pos": 533, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096256", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R533", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760964583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760964583" }, { "id": "rs760964583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760964583" }, { "id": "rs760964583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760964583#frequency_tab" }, { "id": "rs760964583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760964583" }, { "id": "rs760964583", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760964583" } ], "glycoeffect": [], "start_pos": 533, "end_pos": 533, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096255", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R533", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs760964583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760964583" }, { "id": "rs760964583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760964583" }, { "id": "rs760964583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760964583#frequency_tab" }, { "id": "rs760964583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760964583" }, { "id": "rs760964583", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760964583" } ], "glycoeffect": [], "start_pos": 533, "end_pos": 533, "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096255", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R533", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1780347396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780347396" }, { "id": "rs1780347396", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780347396" } ], "glycoeffect": [], "start_pos": 534, "end_pos": 534, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096252", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G534", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1419452606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419452606" }, { "id": "rs1419452606", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1419452606#frequency_tab" }, { "id": "rs1419452606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419452606" } ], "glycoeffect": [], "start_pos": 534, "end_pos": 534, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096253", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G534", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773458670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773458670" }, { "id": "rs773458670", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773458670" }, { "id": "rs773458670", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773458670" } ], "glycoeffect": [], "start_pos": 535, "end_pos": 535, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096250", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H535", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372158274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372158274" }, { "id": "rs372158274", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372158274" }, { "id": "rs372158274", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372158274" } ], "glycoeffect": [], "start_pos": 536, "end_pos": 536, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096247", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G536", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1221008495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221008495" }, { "id": "rs1221008495", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221008495" } ], "glycoeffect": [], "start_pos": 536, "end_pos": 536, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096246", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G536", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372158274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372158274" }, { "id": "rs372158274", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372158274" }, { "id": "rs372158274", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372158274" } ], "glycoeffect": [], "start_pos": 536, "end_pos": 536, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096247", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G536", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127289046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127289046" }, { "id": "rs2127289046", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127289046" } ], "glycoeffect": [], "start_pos": 537, "end_pos": 537, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096243", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L537", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1359428163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359428163" }, { "id": "rs1359428163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359428163" } ], "glycoeffect": [], "start_pos": 538, "end_pos": 538, "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096241", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C538", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1359428163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359428163" }, { "id": "rs1359428163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359428163" } ], "glycoeffect": [], "start_pos": 538, "end_pos": 538, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096241", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C538", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1317872284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317872284" }, { "id": "rs1317872284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317872284" } ], "glycoeffect": [], "start_pos": 539, "end_pos": 539, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096236", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E539", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1241674342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1241674342" }, { "id": "rs1241674342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1241674342" }, { "id": "rs1241674342", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1241674342" } ], "glycoeffect": [], "start_pos": 539, "end_pos": 539, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096238", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E539", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 53, "end_pos": 53, "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098041", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G53", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs989939647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989939647" }, { "id": "rs989939647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs989939647" } ], "glycoeffect": [], "start_pos": 541, "end_pos": 541, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096231", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G541", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 541, "end_pos": 541, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096232", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G541", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs989939647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989939647" }, { "id": "rs989939647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs989939647" }, { "id": "rs989939647", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs989939647" } ], "glycoeffect": [], "start_pos": 541, "end_pos": 541, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096231", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G541", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1303851738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303851738" }, { "id": "rs1303851738", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1303851738#frequency_tab" }, { "id": "rs1303851738", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303851738" } ], "glycoeffect": [], "start_pos": 542, "end_pos": 542, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096228", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V542", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769839272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769839272" }, { "id": "rs769839272", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769839272" }, { "id": "rs769839272", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769839272#frequency_tab" }, { "id": "rs769839272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769839272" } ], "glycoeffect": [], "start_pos": 542, "end_pos": 542, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096229", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V542", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769839272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769839272" }, { "id": "rs769839272", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769839272" }, { "id": "rs769839272", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769839272#frequency_tab" }, { "id": "rs769839272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769839272" } ], "glycoeffect": [], "start_pos": 542, "end_pos": 542, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096229", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V542", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780343770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780343770" }, { "id": "rs1780343770", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780343770#frequency_tab" } ], "glycoeffect": [], "start_pos": 544, "end_pos": 544, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096222", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V544", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867750671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867750671" }, { "id": "rs867750671", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867750671" } ], "glycoeffect": [], "start_pos": 544, "end_pos": 544, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096223", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V544", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1454167008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454167008" }, { "id": "rs1454167008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454167008" } ], "glycoeffect": [], "start_pos": 545, "end_pos": 545, "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096222_32096223", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C545", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 545, "end_pos": 545, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096220", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "C545", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1299930307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299930307" }, { "id": "rs1299930307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299930307" } ], "glycoeffect": [], "start_pos": 545, "end_pos": 545, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096219", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C545", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868703142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868703142" }, { "id": "rs868703142", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868703142" } ], "glycoeffect": [], "start_pos": 546, "end_pos": 546, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096216", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D546", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866032782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866032782" }, { "id": "rs866032782", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866032782" } ], "glycoeffect": [], "start_pos": 546, "end_pos": 546, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096217", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D546", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542518534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542518534" }, { "id": "rs542518534", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542518534" } ], "glycoeffect": [], "start_pos": 547, "end_pos": 547, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096214", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A547", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1363037647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363037647" }, { "id": "rs1363037647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363037647" } ], "glycoeffect": [], "start_pos": 547, "end_pos": 547, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096213", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A547", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs957352855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs957352855" }, { "id": "rs957352855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs957352855" } ], "glycoeffect": [], "start_pos": 548, "end_pos": 548, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096210", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G548", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1404616486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404616486" }, { "id": "rs1404616486", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1404616486#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 549, "end_pos": 549, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096208", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y549", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1429534356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429534356" }, { "id": "rs1429534356", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429534356" } ], "glycoeffect": [], "start_pos": 549, "end_pos": 549, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096207", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y549", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866570657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866570657" }, { "id": "rs866570657", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866570657" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 550, "end_pos": 550, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096204", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S550", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1267438285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267438285" }, { "id": "rs1267438285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1267438285" } ], "glycoeffect": [], "start_pos": 551, "end_pos": 551, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096202", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G551", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746751037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746751037" }, { "id": "rs746751037", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746751037" }, { "id": "rs746751037", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746751037#frequency_tab" }, { "id": "rs746751037", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746751037" } ], "glycoeffect": [], "start_pos": 552, "end_pos": 552, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096197", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E552", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780339755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780339755" }, { "id": "rs1780339755", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780339755#frequency_tab" } ], "glycoeffect": [], "start_pos": 552, "end_pos": 552, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096198", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E552", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757147320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757147320" }, { "id": "rs757147320", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757147320" }, { "id": "rs757147320", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757147320" } ], "glycoeffect": [], "start_pos": 552, "end_pos": 552, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096199", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E552", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761635725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761635725" } ], "glycoeffect": [], "start_pos": 552, "end_pos": 552, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096202_32096203", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E552", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1032186637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1032186637" }, { "id": "rs1032186637", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1032186637#frequency_tab" }, { "id": "rs1032186637", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1032186637" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 555, "end_pos": 555, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096190", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S555", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1284161622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284161622" }, { "id": "rs1284161622", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284161622" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 555, "end_pos": 555, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096189", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S555", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs865947374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865947374" }, { "id": "rs865947374", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs865947374#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 556, "end_pos": 556, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096186", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T556", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs865947374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865947374" }, { "id": "rs865947374", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs865947374#frequency_tab" }, { "id": "rs865947374", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs865947374" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 556, "end_pos": 556, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096186", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T556", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1343698523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343698523" }, { "id": "rs1343698523", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1343698523" } ], "glycoeffect": [], "start_pos": 557, "end_pos": 557, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096184", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R557", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382744307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382744307" }, { "id": "rs1382744307", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1382744307#frequency_tab" }, { "id": "rs1382744307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382744307" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 558, "end_pos": 558, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096180", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S558", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382744307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382744307" }, { "id": "rs1382744307", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1382744307#frequency_tab" }, { "id": "rs1382744307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382744307" } ], "glycoeffect": [], "start_pos": 558, "end_pos": 558, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096180", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S558", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs966924073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs966924073" }, { "id": "rs966924073", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs966924073#frequency_tab" } ], "glycoeffect": [], "start_pos": 559, "end_pos": 559, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096176", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C559", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2127294359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127294359" }, { "id": "rs2127294359", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2127294359" } ], "glycoeffect": [], "start_pos": 55, "end_pos": 55, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098035", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P55", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483754982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483754982" } ], "glycoeffect": [], "start_pos": 560, "end_pos": 560, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096175", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P560", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1286957166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286957166" }, { "id": "rs1286957166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286957166" } ], "glycoeffect": [], "start_pos": 561, "end_pos": 561, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096171", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1190301201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190301201" }, { "id": "rs1190301201", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1190301201#frequency_tab" }, { "id": "rs1190301201", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1190301201" } ], "glycoeffect": [], "start_pos": 561, "end_pos": 561, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096172", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G561", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1780335473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780335473" }, { "id": "rs1780335473", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780335473#frequency_tab" }, { "id": "rs1780335473", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780335473" } ], "glycoeffect": [], "start_pos": 562, "end_pos": 562, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096168", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G562", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 562, "end_pos": 562, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096169", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G562", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1489708596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1489708596" } ], "glycoeffect": [], "start_pos": 562, "end_pos": 562, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096176", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G562", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1406410429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406410429" }, { "id": "rs1406410429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406410429" } ], "glycoeffect": [], "start_pos": 563, "end_pos": 563, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096165", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C563", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1175233708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175233708" }, { "id": "rs1175233708", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1175233708#frequency_tab" }, { "id": "rs1175233708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175233708" }, { "id": "rs1175233708", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1175233708" } ], "glycoeffect": [], "start_pos": 564, "end_pos": 564, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096163", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R564", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1156732611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156732611" }, { "id": "rs1156732611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1156732611#frequency_tab" }, { "id": "rs1156732611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1156732611" } ], "glycoeffect": [], "start_pos": 564, "end_pos": 564, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096162", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R564", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1156732611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156732611" }, { "id": "rs1156732611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1156732611#frequency_tab" }, { "id": "rs1156732611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1156732611" } ], "glycoeffect": [], "start_pos": 564, "end_pos": 564, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096162", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R564", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752314278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752314278" }, { "id": "rs752314278", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752314278" }, { "id": "rs752314278", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752314278#frequency_tab" }, { "id": "rs752314278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752314278" } ], "glycoeffect": [], "start_pos": 565, "end_pos": 565, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096159", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G565", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752314278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752314278" }, { "id": "rs752314278", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752314278" }, { "id": "rs752314278", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752314278#frequency_tab" }, { "id": "rs752314278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752314278" } ], "glycoeffect": [], "start_pos": 565, "end_pos": 565, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096159", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G565", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1425189838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425189838" }, { "id": "rs1425189838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1425189838" } ], "glycoeffect": [], "start_pos": 566, "end_pos": 566, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096156", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R566", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1420272743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420272743" }, { "id": "rs1420272743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1420272743#frequency_tab" }, { "id": "rs1420272743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420272743" } ], "glycoeffect": [], "start_pos": 566, "end_pos": 566, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096157", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R566", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1193189844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193189844" }, { "id": "rs1193189844", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1193189844#frequency_tab" }, { "id": "rs1193189844", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193189844" } ], "glycoeffect": [], "start_pos": 567, "end_pos": 567, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096154", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G567", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780333169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780333169" }, { "id": "rs1780333169", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780333169" } ], "glycoeffect": [], "start_pos": 569, "end_pos": 569, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096148", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C569", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754450129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754450129" }, { "id": "rs754450129", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754450129" }, { "id": "rs754450129", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754450129#frequency_tab" }, { "id": "rs754450129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754450129" } ], "glycoeffect": [], "start_pos": 569, "end_pos": 569, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096147", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C569", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754450129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754450129" }, { "id": "rs754450129", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754450129" }, { "id": "rs754450129", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754450129#frequency_tab" }, { "id": "rs754450129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754450129" } ], "glycoeffect": [], "start_pos": 569, "end_pos": 569, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096147", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C569", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751628394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751628394" }, { "id": "rs751628394", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751628394" }, { "id": "rs751628394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751628394" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 56, "end_pos": 56, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098032", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S56", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1332242390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332242390" }, { "id": "rs1332242390", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1332242390#frequency_tab" }, { "id": "rs1332242390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332242390" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 56, "end_pos": 56, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098033", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S56", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 56, "end_pos": 56, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098032", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S56", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs754309419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754309419" }, { "id": "rs754309419", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754309419" }, { "id": "rs754309419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754309419" } ], "glycoeffect": [], "start_pos": 571, "end_pos": 571, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096141", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1203827421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1203827421" }, { "id": "rs1203827421", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1203827421" } ], "glycoeffect": [], "start_pos": 571, "end_pos": 571, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096142", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562874423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562874423" }, { "id": "rs1562874423", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1562874423#frequency_tab" }, { "id": "rs1562874423", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1562874423" } ], "glycoeffect": [], "start_pos": 572, "end_pos": 572, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096138", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G572", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761054377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761054377" }, { "id": "rs761054377", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761054377" }, { "id": "rs761054377", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761054377#frequency_tab" }, { "id": "rs761054377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761054377" } ], "glycoeffect": [], "start_pos": 573, "end_pos": 573, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096135", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761054377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761054377" }, { "id": "rs761054377", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761054377" }, { "id": "rs761054377", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761054377#frequency_tab" }, { "id": "rs761054377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761054377" } ], "glycoeffect": [], "start_pos": 573, "end_pos": 573, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096135", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 573, "end_pos": 573, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096136", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R573", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs773548549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773548549" }, { "id": "rs773548549", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773548549" }, { "id": "rs773548549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773548549" } ], "glycoeffect": [], "start_pos": 576, "end_pos": 576, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096127", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C576", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582473252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582473252" }, { "id": "rs1582473252", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582473252" } ], "glycoeffect": [], "start_pos": 576, "end_pos": 576, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096126", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C576", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582473252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582473252" }, { "id": "rs1582473252", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582473252" } ], "glycoeffect": [], "start_pos": 576, "end_pos": 576, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096126", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C576", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767766489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767766489" }, { "id": "rs767766489", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767766489" }, { "id": "rs767766489", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767766489#frequency_tab" }, { "id": "rs767766489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767766489" } ], "glycoeffect": [], "start_pos": 577, "end_pos": 577, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096123", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E577", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1272009576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272009576" }, { "id": "rs1272009576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1272009576" } ], "glycoeffect": [], "start_pos": 577, "end_pos": 577, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096124", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E577", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 578, "end_pos": 578, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096120", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D578", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1325827956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325827956" }, { "id": "rs1325827956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325827956" } ], "glycoeffect": [], "start_pos": 578, "end_pos": 578, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096121", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D578", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 579, "end_pos": 579, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096118", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G579", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780329372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780329372" }, { "id": "rs1780329372", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780329372#frequency_tab" }, { "id": "rs1780329372", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780329372" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 580, "end_pos": 580, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096113", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y580", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761561411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761561411" }, { "id": "rs761561411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761561411#frequency_tab" }, { "id": "rs761561411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761561411" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 580, "end_pos": 580, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096114", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y580", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs774549715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774549715" }, { "id": "rs774549715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774549715" }, { "id": "rs774549715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774549715" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 580, "end_pos": 580, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096115", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y580", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398125163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398125163" }, { "id": "rs1398125163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398125163" } ], "glycoeffect": [], "start_pos": 583, "end_pos": 583, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096105", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E583", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1300995657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300995657" }, { "id": "rs1300995657", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1300995657#frequency_tab" }, { "id": "rs1300995657", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300995657" } ], "glycoeffect": [], "start_pos": 583, "end_pos": 583, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096106", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E583", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1390018472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1390018472" }, { "id": "rs1390018472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1390018472#frequency_tab" }, { "id": "rs1390018472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1390018472" } ], "glycoeffect": [], "start_pos": 584, "end_pos": 584, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096103", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D584", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1390018472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1390018472" }, { "id": "rs1390018472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1390018472#frequency_tab" }, { "id": "rs1390018472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1390018472" } ], "glycoeffect": [], "start_pos": 584, "end_pos": 584, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096103", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D584", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749346587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749346587" }, { "id": "rs749346587", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749346587" }, { "id": "rs749346587", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749346587#frequency_tab" }, { "id": "rs749346587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749346587" } ], "glycoeffect": [], "start_pos": 586, "end_pos": 586, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096096", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G586", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs563266055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563266055" }, { "id": "rs563266055", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563266055" }, { "id": "rs563266055", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563266055#frequency_tab" }, { "id": "rs563266055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563266055" } ], "glycoeffect": [], "start_pos": 586, "end_pos": 586, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096097", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G586", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749346587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749346587" }, { "id": "rs749346587", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749346587" }, { "id": "rs749346587", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749346587#frequency_tab" }, { "id": "rs749346587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749346587" } ], "glycoeffect": [], "start_pos": 586, "end_pos": 586, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096096", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G586", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs563266055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563266055" }, { "id": "rs563266055", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563266055" }, { "id": "rs563266055", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563266055#frequency_tab" }, { "id": "rs563266055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563266055" } ], "glycoeffect": [], "start_pos": 586, "end_pos": 586, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096097", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G586", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1373074796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373074796" }, { "id": "rs1373074796", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373074796" } ], "glycoeffect": [], "start_pos": 588, "end_pos": 588, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096091", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R588", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 589, "end_pos": 589, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096088", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q589", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 589, "end_pos": 589, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096087", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q589", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1411300342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411300342" }, { "id": "rs1411300342", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1411300342#frequency_tab" }, { "id": "rs1411300342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411300342" }, { "id": "rs1411300342", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1411300342" } ], "glycoeffect": [], "start_pos": 58, "end_pos": 58, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098025", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q58", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs770968411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770968411" }, { "id": "rs770968411", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770968411" }, { "id": "rs770968411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770968411#frequency_tab" }, { "id": "rs770968411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770968411" } ], "glycoeffect": [], "start_pos": 591, "end_pos": 591, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096081", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P591", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780327020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780327020" }, { "id": "rs1780327020", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780327020#frequency_tab" } ], "glycoeffect": [], "start_pos": 591, "end_pos": 591, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096082", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P591", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780326294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780326294" }, { "id": "rs1780326294", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780326294#frequency_tab" }, { "id": "rs1780326294", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780326294" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 592, "end_pos": 592, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096079", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N592", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777702546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777702546" }, { "id": "rs777702546", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777702546" }, { "id": "rs777702546", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777702546" } ], "glycoeffect": [], "start_pos": 593, "end_pos": 593, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096075", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D593", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs950592109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs950592109" }, { "id": "rs950592109", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs950592109" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 595, "end_pos": 595, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096069", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S595", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs950592109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs950592109" }, { "id": "rs950592109", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs950592109" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 595, "end_pos": 595, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096069", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S595", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758179304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758179304" }, { "id": "rs758179304", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758179304" }, { "id": "rs758179304", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758179304#frequency_tab" }, { "id": "rs758179304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758179304" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 595, "end_pos": 595, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096068", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S595", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1275345689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275345689" }, { "id": "rs1275345689", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1275345689" } ], "glycoeffect": [], "start_pos": 596, "end_pos": 596, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096067", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1243016062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243016062" }, { "id": "rs1243016062", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1243016062#frequency_tab" } ], "glycoeffect": [], "start_pos": 596, "end_pos": 596, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096065", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483753616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483753616" } ], "glycoeffect": [], "start_pos": 596, "end_pos": 596, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096066", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196528806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196528806" }, { "id": "rs1196528806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196528806" } ], "glycoeffect": [], "start_pos": 597, "end_pos": 597, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096064", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H597", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1249632506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249632506" }, { "id": "rs1249632506", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1249632506#frequency_tab" }, { "id": "rs1249632506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249632506" }, { "id": "rs1249632506", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1249632506" } ], "glycoeffect": [], "start_pos": 599, "end_pos": 599, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096058", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V599", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs746664079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746664079" }, { "id": "rs746664079", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746664079" }, { "id": "rs746664079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746664079" } ], "glycoeffect": [], "start_pos": 5, "end_pos": 5, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098186", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1360017165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360017165" }, { "id": "rs1360017165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360017165" } ], "glycoeffect": [], "start_pos": 600, "end_pos": 600, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096054", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C600", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 601, "end_pos": 601, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096050", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q601", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1027446836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1027446836" }, { "id": "rs1027446836", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1027446836" } ], "glycoeffect": [], "start_pos": 601, "end_pos": 601, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096051", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q601", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483753440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483753440" } ], "glycoeffect": [], "start_pos": 602, "end_pos": 602, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096047", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D602", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs754481329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754481329" }, { "id": "rs754481329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754481329" }, { "id": "rs754481329", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754481329#frequency_tab" }, { "id": "rs754481329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754481329" } ], "glycoeffect": [], "start_pos": 603, "end_pos": 603, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096046", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G603", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753344187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753344187" }, { "id": "rs753344187", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753344187" }, { "id": "rs753344187", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753344187#frequency_tab" }, { "id": "rs753344187", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753344187" }, { "id": "rs753344187", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753344187" } ], "glycoeffect": [], "start_pos": 603, "end_pos": 603, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32096045", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "0.000010", "site_lbl": "G603", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs754481329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754481329" } ], "glycoeffect": [], "start_pos": 603, "end_pos": 603, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096046", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G603", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754481329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754481329" }, { "id": "rs754481329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754481329" }, { "id": "rs754481329", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754481329#frequency_tab" }, { "id": "rs754481329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754481329" } ], "glycoeffect": [], "start_pos": 603, "end_pos": 603, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096046", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G603", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766924427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766924427" }, { "id": "rs766924427", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766924427" }, { "id": "rs766924427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766924427" } ], "glycoeffect": [], "start_pos": 604, "end_pos": 604, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096043", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V604", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780323233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780323233" }, { "id": "rs1780323233", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780323233#frequency_tab" }, { "id": "rs1780323233", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780323233" } ], "glycoeffect": [], "start_pos": 605, "end_pos": 605, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096039", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C605", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780323233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780323233" }, { "id": "rs1780323233", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780323233#frequency_tab" }, { "id": "rs1780323233", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780323233" } ], "glycoeffect": [], "start_pos": 605, "end_pos": 605, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096039", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C605", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127288190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127288190" }, { "id": "rs2127288190", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127288190" } ], "glycoeffect": [], "start_pos": 606, "end_pos": 606, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096036", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I606", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1001499731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001499731" }, { "id": "rs1001499731", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1001499731#frequency_tab" }, { "id": "rs1001499731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1001499731" } ], "glycoeffect": [], "start_pos": 607, "end_pos": 607, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096033", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1390372607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1390372607" }, { "id": "rs1390372607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1390372607" } ], "glycoeffect": [], "start_pos": 607, "end_pos": 607, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096034", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1001499731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001499731" }, { "id": "rs1001499731", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1001499731#frequency_tab" }, { "id": "rs1001499731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1001499731" } ], "glycoeffect": [], "start_pos": 607, "end_pos": 607, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096033", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 608, "end_pos": 608, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096029", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W608", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs2127288152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127288152" }, { "id": "rs2127288152", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127288152" } ], "glycoeffect": [], "start_pos": 609, "end_pos": 609, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096027", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E609", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs943965548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs943965548" }, { "id": "rs943965548", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs943965548" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 60, "end_pos": 60, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098019", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y60", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483772459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483772459" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 60, "end_pos": 60, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098021", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y60", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750855600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750855600" }, { "id": "rs750855600", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750855600" }, { "id": "rs750855600", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750855600" } ], "glycoeffect": [], "start_pos": 610, "end_pos": 610, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096024", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G610", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1319846051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319846051" }, { "id": "rs1319846051", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1319846051#frequency_tab" }, { "id": "rs1319846051", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1319846051" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 611, "end_pos": 611, "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096021", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y611", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127288086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127288086" }, { "id": "rs2127288086", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127288086" } ], "glycoeffect": [], "start_pos": 612, "end_pos": 612, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096018", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V612", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127288086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127288086" }, { "id": "rs2127288086", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127288086" } ], "glycoeffect": [], "start_pos": 612, "end_pos": 612, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096018", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V612", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368085612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368085612" }, { "id": "rs368085612", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368085612" }, { "id": "rs368085612", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368085612#frequency_tab" }, { "id": "rs368085612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368085612" } ], "glycoeffect": [], "start_pos": 612, "end_pos": 612, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096019", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V612", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368085612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368085612" }, { "id": "rs368085612", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368085612" }, { "id": "rs368085612", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368085612#frequency_tab" }, { "id": "rs368085612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368085612" } ], "glycoeffect": [], "start_pos": 612, "end_pos": 612, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096019", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V612", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61744970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61744970" }, { "id": "rs61744970", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61744970" }, { "id": "rs61744970", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61744970" }, { "id": "rs61744970", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61744970#frequency_tab" }, { "id": "rs61744970", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61744970" }, { "id": "rs61744970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61744970" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 613, "end_pos": 613, "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32096016", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "0.01737", "site_lbl": "S613", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 613, "end_pos": 613, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096015", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S613", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780321016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780321016" }, { "id": "rs1780321016", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780321016" } ], "glycoeffect": [], "start_pos": 613, "end_pos": 613, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096015", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S613", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 614, "end_pos": 614, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096012", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E614", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780320834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780320834" }, { "id": "rs1780320834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780320834#frequency_tab" } ], "glycoeffect": [], "start_pos": 615, "end_pos": 615, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096009", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D615", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1423333838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423333838" } ], "glycoeffect": [], "start_pos": 616, "end_pos": 616, "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096007", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C616", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1423333838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423333838" }, { "id": "rs1423333838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1423333838#frequency_tab" }, { "id": "rs1423333838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423333838" } ], "glycoeffect": [], "start_pos": 616, "end_pos": 616, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096007", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C616", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1009335426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009335426" }, { "id": "rs1009335426", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1009335426" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 617, "end_pos": 617, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096003", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S617", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127288019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127288019" }, { "id": "rs2127288019", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127288019" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 617, "end_pos": 617, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096002", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S617", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370432702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370432702" }, { "id": "rs370432702", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370432702" }, { "id": "rs370432702", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370432702#frequency_tab" }, { "id": "rs370432702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370432702" } ], "glycoeffect": [], "start_pos": 618, "end_pos": 618, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095999", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I618", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127288014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127288014" }, { "id": "rs2127288014", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127288014" } ], "glycoeffect": [], "start_pos": 618, "end_pos": 618, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096000", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I618", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1351835137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351835137" }, { "id": "rs1351835137", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1351835137#frequency_tab" } ], "glycoeffect": [], "start_pos": 619, "end_pos": 619, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095998", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R619", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775679900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775679900" }, { "id": "rs775679900", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775679900" }, { "id": "rs775679900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775679900#frequency_tab" }, { "id": "rs775679900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775679900" } ], "glycoeffect": [], "start_pos": 619, "end_pos": 619, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095997", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R619", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747748846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747748846" }, { "id": "rs747748846", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747748846" }, { "id": "rs747748846", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747748846#frequency_tab" }, { "id": "rs747748846", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747748846" } ], "glycoeffect": [], "start_pos": 61, "end_pos": 61, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098018", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E61", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1248549689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248549689" }, { "id": "rs1248549689", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1248549689#frequency_tab" }, { "id": "rs1248549689", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248549689" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 620, "end_pos": 620, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095994", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T620", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1248549689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248549689" }, { "id": "rs1248549689", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1248549689#frequency_tab" }, { "id": "rs1248549689", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248549689" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 620, "end_pos": 620, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095994", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T620", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1437395559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437395559" }, { "id": "rs1437395559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437395559" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 620, "end_pos": 620, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095995", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T620", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1248549689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248549689" }, { "id": "rs1248549689", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1248549689#frequency_tab" }, { "id": "rs1248549689", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248549689" } ], "glycoeffect": [], "start_pos": 620, "end_pos": 620, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095994", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T620", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs577709747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577709747" }, { "id": "rs577709747", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577709747" }, { "id": "rs577709747", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577709747" }, { "id": "rs577709747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577709747" } ], "glycoeffect": [], "start_pos": 621, "end_pos": 621, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095992", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "C621", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773223609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773223609" }, { "id": "rs773223609", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773223609" }, { "id": "rs773223609", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773223609" } ], "glycoeffect": [], "start_pos": 622, "end_pos": 622, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095989", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P622", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs559096425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559096425" }, { "id": "rs559096425", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559096425" }, { "id": "rs559096425", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559096425" }, { "id": "rs559096425", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs559096425#frequency_tab" }, { "id": "rs559096425", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs559096425" } ], "glycoeffect": [], "start_pos": 622, "end_pos": 622, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095988", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P622", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs559096425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559096425" }, { "id": "rs559096425", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559096425" }, { "id": "rs559096425", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559096425" }, { "id": "rs559096425", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs559096425#frequency_tab" }, { "id": "rs559096425", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs559096425" } ], "glycoeffect": [], "start_pos": 622, "end_pos": 622, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095988", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P622", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773223609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773223609" }, { "id": "rs773223609", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773223609" }, { "id": "rs773223609", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773223609" } ], "glycoeffect": [], "start_pos": 622, "end_pos": 622, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095989", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P622", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287899" }, { "id": "rs2127287899", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287899" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 623, "end_pos": 623, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095986", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S623", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287891" }, { "id": "rs2127287891", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287891" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 623, "end_pos": 623, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095985", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S623", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287870" }, { "id": "rs2127287870", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287870" } ], "glycoeffect": [], "start_pos": 624, "end_pos": 624, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095983", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N624", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1042697787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1042697787" }, { "id": "rs1042697787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1042697787#frequency_tab" }, { "id": "rs1042697787", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1042697787" }, { "id": "rs1042697787", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1042697787" } ], "glycoeffect": [], "start_pos": 624, "end_pos": 624, "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095982", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N624", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1780318121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780318121" }, { "id": "rs1780318121", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780318121#frequency_tab" } ], "glycoeffect": [], "start_pos": 625, "end_pos": 625, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095978", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C625", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780317946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780317946" }, { "id": "rs1780317946", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780317946" } ], "glycoeffect": [], "start_pos": 626, "end_pos": 626, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095977", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562873922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562873922" }, { "id": "rs1562873922", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562873922" } ], "glycoeffect": [], "start_pos": 626, "end_pos": 626, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095976", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554334255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554334255" } ], "glycoeffect": [], "start_pos": 626, "end_pos": 626, "sequence_org": "H", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095975", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H626", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1279857689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1279857689" }, { "id": "rs1279857689", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1279857689#frequency_tab" }, { "id": "rs1279857689", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1279857689" } ], "glycoeffect": [], "start_pos": 627, "end_pos": 627, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095974", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G627", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768336042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768336042" }, { "id": "rs768336042", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768336042" }, { "id": "rs768336042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768336042" } ], "glycoeffect": [], "start_pos": 628, "end_pos": 628, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095971", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R628", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304448277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304448277" }, { "id": "rs1304448277", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304448277" } ], "glycoeffect": [], "start_pos": 628, "end_pos": 628, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095970", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R628", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780316560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780316560" }, { "id": "rs1780316560", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780316560" } ], "glycoeffect": [], "start_pos": 628, "end_pos": 628, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095969", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R628", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 629, "end_pos": 629, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095968", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G629", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 62, "end_pos": 62, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098015", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H62", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2066017103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2066017103" }, { "id": "rs2066017103", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2066017103#frequency_tab" } ], "glycoeffect": [], "start_pos": 62, "end_pos": 62, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098015", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H62", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748840851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748840851" }, { "id": "rs748840851", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748840851" }, { "id": "rs748840851", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748840851#frequency_tab" }, { "id": "rs748840851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748840851" } ], "glycoeffect": [], "start_pos": 630, "end_pos": 630, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095965", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1303066307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303066307" }, { "id": "rs1303066307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303066307" } ], "glycoeffect": [], "start_pos": 630, "end_pos": 630, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095964", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780315559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780315559" } ], "glycoeffect": [], "start_pos": 632, "end_pos": 632, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095959", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E632", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780315559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780315559" }, { "id": "rs1780315559", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780315559#frequency_tab" } ], "glycoeffect": [], "start_pos": 632, "end_pos": 632, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095959", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E632", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287689" }, { "id": "rs2127287689", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287689" } ], "glycoeffect": [], "start_pos": 633, "end_pos": 633, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095954", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E633", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554334243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554334243" }, { "id": "rs1554334243", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1554334243" } ], "glycoeffect": [], "start_pos": 633, "end_pos": 633, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095956", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E633", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779535569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779535569" }, { "id": "rs779535569", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779535569" }, { "id": "rs779535569", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779535569#frequency_tab" }, { "id": "rs779535569", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779535569" } ], "glycoeffect": [], "start_pos": 634, "end_pos": 634, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095952", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G634", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780315184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780315184" }, { "id": "rs1780315184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780315184#frequency_tab" } ], "glycoeffect": [], "start_pos": 634, "end_pos": 634, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095953", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G634", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1780314817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780314817" }, { "id": "rs1780314817", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780314817#frequency_tab" }, { "id": "rs1780314817", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780314817" } ], "glycoeffect": [], "start_pos": 635, "end_pos": 635, "subjects_tested": "2670", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095950", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R635", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1780314817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780314817" }, { "id": "rs1780314817", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780314817#frequency_tab" } ], "glycoeffect": [], "start_pos": 635, "end_pos": 635, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095950", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R635", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159470692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159470692" }, { "id": "rs1159470692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159470692" }, { "id": "rs1159470692", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1159470692" } ], "glycoeffect": [], "start_pos": 635, "end_pos": 635, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095949", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R635", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1159470692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159470692" }, { "id": "rs1159470692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159470692" } ], "glycoeffect": [], "start_pos": 635, "end_pos": 635, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095949", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R635", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 637, "end_pos": 637, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095943", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L637", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2127287616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287616" }, { "id": "rs2127287616", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287616" } ], "glycoeffect": [], "start_pos": 637, "end_pos": 637, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095944", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L637", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469837411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469837411" }, { "id": "rs1469837411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469837411" } ], "glycoeffect": [], "start_pos": 638, "end_pos": 638, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095940", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C638", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 639, "end_pos": 639, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095937", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D639", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs756672906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756672906" }, { "id": "rs756672906", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756672906" }, { "id": "rs756672906", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756672906" } ], "glycoeffect": [], "start_pos": 639, "end_pos": 639, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095938", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D639", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756672906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756672906" }, { "id": "rs756672906", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756672906" }, { "id": "rs756672906", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756672906" } ], "glycoeffect": [], "start_pos": 639, "end_pos": 639, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095938", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D639", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs945610750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs945610750" }, { "id": "rs945610750", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs945610750" } ], "glycoeffect": [], "start_pos": 640, "end_pos": 640, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095935", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P640", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750941884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750941884" }, { "id": "rs750941884", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750941884" }, { "id": "rs750941884", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750941884" } ], "glycoeffect": [], "start_pos": 640, "end_pos": 640, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095934", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P640", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs945610750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs945610750" }, { "id": "rs945610750", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs945610750" } ], "glycoeffect": [], "start_pos": 640, "end_pos": 640, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095935", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P640", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780312351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780312351" }, { "id": "rs1780312351", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780312351#frequency_tab" } ], "glycoeffect": [], "start_pos": 641, "end_pos": 641, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095931", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G641", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs17201609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17201609" }, { "id": "rs17201609", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17201609" } ], "glycoeffect": [], "start_pos": 641, "end_pos": 641, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095932", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G641", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs17201609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17201609" }, { "id": "rs17201609", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17201609" } ], "glycoeffect": [], "start_pos": 641, "end_pos": 641, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095932", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G641", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764261572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764261572" }, { "id": "rs764261572", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764261572" }, { "id": "rs764261572", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764261572" } ], "glycoeffect": [], "start_pos": 644, "end_pos": 644, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095923", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G644", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs764261572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764261572" }, { "id": "rs764261572", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764261572" }, { "id": "rs764261572", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764261572" }, { "id": "rs764261572", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764261572" } ], "glycoeffect": [], "start_pos": 644, "end_pos": 644, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095923", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G644", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1244100394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244100394" }, { "id": "rs1244100394", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244100394#frequency_tab" }, { "id": "rs1244100394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244100394" } ], "glycoeffect": [], "start_pos": 645, "end_pos": 645, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095920", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780310942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780310942" }, { "id": "rs1780310942", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780310942#frequency_tab" } ], "glycoeffect": [], "start_pos": 645, "end_pos": 645, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095919", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780310942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780310942" }, { "id": "rs1780310942", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780310942#frequency_tab" } ], "glycoeffect": [], "start_pos": 645, "end_pos": 645, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095919", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244100394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244100394" }, { "id": "rs1244100394", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244100394#frequency_tab" }, { "id": "rs1244100394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244100394" } ], "glycoeffect": [], "start_pos": 645, "end_pos": 645, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095920", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1348155802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1348155802" }, { "id": "rs1348155802", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1348155802" } ], "glycoeffect": [], "start_pos": 647, "end_pos": 647, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095913", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C647", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287359" }, { "id": "rs2127287359", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287359" } ], "glycoeffect": [], "start_pos": 648, "end_pos": 648, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095910", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A648", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763231833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763231833" }, { "id": "rs763231833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763231833" }, { "id": "rs763231833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763231833#frequency_tab" }, { "id": "rs763231833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763231833" } ], "glycoeffect": [], "start_pos": 648, "end_pos": 648, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095911", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A648", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763231833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763231833" }, { "id": "rs763231833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763231833" }, { "id": "rs763231833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763231833#frequency_tab" }, { "id": "rs763231833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763231833" } ], "glycoeffect": [], "start_pos": 648, "end_pos": 648, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095911", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A648", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780310062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780310062" }, { "id": "rs1780310062", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780310062#frequency_tab" }, { "id": "rs1780310062", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780310062" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 649, "end_pos": 649, "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32095908", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "1e-06", "site_lbl": "T649", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs752877508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752877508" }, { "id": "rs752877508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752877508" }, { "id": "rs752877508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752877508" } ], "glycoeffect": [], "start_pos": 649, "end_pos": 649, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095907", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T649", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773316282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773316282" }, { "id": "rs773316282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773316282" }, { "id": "rs773316282", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773316282#frequency_tab" }, { "id": "rs773316282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773316282" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095905", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R650", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773316282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773316282" }, { "id": "rs773316282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773316282" }, { "id": "rs773316282", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773316282#frequency_tab" }, { "id": "rs773316282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773316282" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095905", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R650", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs17201602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17201602" }, { "id": "rs17201602", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17201602" }, { "id": "rs17201602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs17201602#frequency_tab" }, { "id": "rs17201602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs17201602" }, { "id": "rs17201602", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17201602" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095904", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R650", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1347415116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347415116" }, { "id": "rs1347415116", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347415116" } ], "glycoeffect": [], "start_pos": 651, "end_pos": 651, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095900", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M651", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200369087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200369087" }, { "id": "rs200369087", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200369087" }, { "id": "rs200369087", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200369087#frequency_tab" }, { "id": "rs200369087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200369087" } ], "glycoeffect": [], "start_pos": 651, "end_pos": 651, "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095901", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M651", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200369087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200369087" }, { "id": "rs200369087", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200369087" }, { "id": "rs200369087", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200369087#frequency_tab" }, { "id": "rs200369087", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200369087" } ], "glycoeffect": [], "start_pos": 651, "end_pos": 651, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095901", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M651", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1319450702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319450702" }, { "id": "rs1319450702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1319450702" } ], "glycoeffect": [], "start_pos": 652, "end_pos": 652, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095898", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C652", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1400458163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400458163" }, { "id": "rs1400458163", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1400458163#frequency_tab" }, { "id": "rs1400458163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1400458163" } ], "glycoeffect": [], "start_pos": 653, "end_pos": 653, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095895", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P653", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1400458163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400458163" }, { "id": "rs1400458163", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1400458163#frequency_tab" }, { "id": "rs1400458163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1400458163" } ], "glycoeffect": [], "start_pos": 653, "end_pos": 653, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095895", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P653", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1400458163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400458163" }, { "id": "rs1400458163", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1400458163#frequency_tab" }, { "id": "rs1400458163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1400458163" } ], "glycoeffect": [], "start_pos": 653, "end_pos": 653, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095895", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P653", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 654, "end_pos": 654, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095892", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A654", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2127287257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287257" }, { "id": "rs2127287257", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287257" } ], "glycoeffect": [], "start_pos": 654, "end_pos": 654, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095892", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A654", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377456122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377456122" }, { "id": "rs377456122", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377456122" }, { "id": "rs377456122", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377456122#frequency_tab" }, { "id": "rs377456122", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377456122" } ], "glycoeffect": [], "start_pos": 654, "end_pos": 654, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095893", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A654", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377456122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377456122" }, { "id": "rs377456122", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377456122" }, { "id": "rs377456122", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377456122#frequency_tab" }, { "id": "rs377456122", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377456122" } ], "glycoeffect": [], "start_pos": 654, "end_pos": 654, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095893", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A654", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 654, "end_pos": 654, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095892", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A654", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs372621686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372621686" }, { "id": "rs372621686", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372621686" }, { "id": "rs372621686", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372621686" }, { "id": "rs372621686", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372621686#frequency_tab" }, { "id": "rs372621686", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372621686" } ], "glycoeffect": [], "start_pos": 655, "end_pos": 655, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095888", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000784929", "site_lbl": "D655", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287225" }, { "id": "rs2127287225", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287225" } ], "glycoeffect": [], "start_pos": 655, "end_pos": 655, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095889", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D655", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774168663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774168663" }, { "id": "rs774168663", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774168663" }, { "id": "rs774168663", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774168663" } ], "glycoeffect": [], "start_pos": 655, "end_pos": 655, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095890", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D655", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748926764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748926764" }, { "id": "rs748926764", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748926764" }, { "id": "rs748926764", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748926764#frequency_tab" }, { "id": "rs748926764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748926764" } ], "glycoeffect": [], "start_pos": 657, "end_pos": 657, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095884", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R657", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369010388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369010388" }, { "id": "rs369010388", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369010388" }, { "id": "rs369010388", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369010388#frequency_tab" }, { "id": "rs369010388", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369010388" } ], "glycoeffect": [], "start_pos": 658, "end_pos": 658, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095881", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G658", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs566064678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566064678" }, { "id": "rs566064678", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs566064678" }, { "id": "rs566064678", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566064678" }, { "id": "rs566064678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs566064678" } ], "glycoeffect": [], "start_pos": 659, "end_pos": 659, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095878", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R659", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781597053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781597053" }, { "id": "rs781597053", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781597053" }, { "id": "rs781597053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781597053#frequency_tab" }, { "id": "rs781597053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781597053" } ], "glycoeffect": [], "start_pos": 659, "end_pos": 659, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095877", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R659", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781597053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781597053" }, { "id": "rs781597053", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781597053" }, { "id": "rs781597053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781597053#frequency_tab" }, { "id": "rs781597053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781597053" } ], "glycoeffect": [], "start_pos": 659, "end_pos": 659, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095877", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R659", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780509782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780509782" }, { "id": "rs1780509782", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780509782#frequency_tab" } ], "glycoeffect": [], "start_pos": 65, "end_pos": 65, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098005", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E65", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 65, "end_pos": 65, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098006", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E65", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1463369756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463369756" }, { "id": "rs1463369756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463369756" } ], "glycoeffect": [], "start_pos": 660, "end_pos": 660, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095875", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G660", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780305725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780305725" }, { "id": "rs1780305725", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780305725#frequency_tab" } ], "glycoeffect": [], "start_pos": 661, "end_pos": 661, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095871", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R661", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780305725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780305725" }, { "id": "rs1780305725", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780305725#frequency_tab" } ], "glycoeffect": [], "start_pos": 661, "end_pos": 661, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095871", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R661", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751935456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751935456" }, { "id": "rs751935456", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751935456" }, { "id": "rs751935456", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751935456#frequency_tab" }, { "id": "rs751935456", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751935456" }, { "id": "rs751935456", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751935456" } ], "glycoeffect": [], "start_pos": 661, "end_pos": 661, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095872", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R661", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 662, "end_pos": 662, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095867", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C662", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483751238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483751238" } ], "glycoeffect": [], "start_pos": 662, "end_pos": 662, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095868", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C662", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287082" }, { "id": "rs2127287082", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287082" } ], "glycoeffect": [], "start_pos": 663, "end_pos": 663, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095866", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V663", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287051" }, { "id": "rs2127287051", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287051" } ], "glycoeffect": [], "start_pos": 664, "end_pos": 664, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095863", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q664", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758629435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758629435" }, { "id": "rs758629435", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758629435" }, { "id": "rs758629435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758629435" } ], "glycoeffect": [], "start_pos": 664, "end_pos": 664, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095861", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q664", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775879883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775879883" }, { "id": "rs775879883", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs775879883" } ], "glycoeffect": [], "start_pos": 664, "end_pos": 664, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095862", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q664", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287007" }, { "id": "rs2127287007", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287007" } ], "glycoeffect": [], "start_pos": 666, "end_pos": 666, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095856", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V666", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287014" }, { "id": "rs2127287014", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287014" } ], "glycoeffect": [], "start_pos": 666, "end_pos": 666, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095857", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V666", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780304575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780304575" }, { "id": "rs1780304575", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780304575#frequency_tab" } ], "glycoeffect": [], "start_pos": 667, "end_pos": 667, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095852", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C667", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 667, "end_pos": 667, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095853", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C667", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 668, "end_pos": 668, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095850", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L668", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1260732754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260732754" }, { "id": "rs1260732754", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260732754" } ], "glycoeffect": [], "start_pos": 668, "end_pos": 668, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095850", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L668", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1380747344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380747344" }, { "id": "rs1380747344", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1380747344#frequency_tab" } ], "glycoeffect": [], "start_pos": 668, "end_pos": 668, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095851", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L668", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780304037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780304037" }, { "id": "rs1780304037", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780304037#frequency_tab" } ], "glycoeffect": [], "start_pos": 669, "end_pos": 669, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095847", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C669", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 66, "end_pos": 66, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098003", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G66", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs200569294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200569294" }, { "id": "rs200569294", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200569294" }, { "id": "rs200569294", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200569294" }, { "id": "rs200569294", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200569294#frequency_tab" }, { "id": "rs200569294", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200569294" } ], "glycoeffect": [], "start_pos": 66, "end_pos": 66, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098002", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G66", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs200569294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200569294" }, { "id": "rs200569294", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200569294" }, { "id": "rs200569294", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200569294" }, { "id": "rs200569294", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200569294#frequency_tab" }, { "id": "rs200569294", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200569294" } ], "glycoeffect": [], "start_pos": 66, "end_pos": 66, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098002", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G66", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765513741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765513741" }, { "id": "rs765513741", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765513741" }, { "id": "rs765513741", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765513741" } ], "glycoeffect": [], "start_pos": 670, "end_pos": 670, "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095845", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H670", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1271280970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1271280970" }, { "id": "rs1271280970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1271280970" } ], "glycoeffect": [], "start_pos": 670, "end_pos": 670, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095843", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H670", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765513741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765513741" }, { "id": "rs765513741", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765513741" }, { "id": "rs765513741", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765513741" } ], "glycoeffect": [], "start_pos": 670, "end_pos": 670, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095845", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H670", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2127286916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127286916" }, { "id": "rs2127286916", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127286916" } ], "glycoeffect": [], "start_pos": 671, "end_pos": 671, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095841", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V671", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1277196845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1277196845" }, { "id": "rs1277196845", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1277196845#frequency_tab" }, { "id": "rs1277196845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1277196845" }, { "id": "rs1277196845", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1277196845" } ], "glycoeffect": [], "start_pos": 671, "end_pos": 671, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095842", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V671", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "rs1430534850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430534850" }, { "id": "rs1430534850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1430534850" } ], "glycoeffect": [], "start_pos": 672, "end_pos": 672, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095838", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G672", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 672, "end_pos": 672, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32041356", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G672", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs759713941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759713941" }, { "id": "rs759713941", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759713941" }, { "id": "rs759713941", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759713941#frequency_tab" }, { "id": "rs759713941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759713941" }, { "id": "rs759713941", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759713941" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 673, "end_pos": 673, "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095835", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y673", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs759713941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759713941" }, { "id": "rs759713941", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759713941" }, { "id": "rs759713941", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759713941#frequency_tab" }, { "id": "rs759713941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759713941" } ], "glycoeffect": [], "start_pos": 673, "end_pos": 673, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095835", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y673", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1339027762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339027762" }, { "id": "rs1339027762", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339027762" } ], "glycoeffect": [], "start_pos": 674, "end_pos": 674, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095832", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G674", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780301731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780301731" }, { "id": "rs1780301731", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780301731" } ], "glycoeffect": [], "start_pos": 675, "end_pos": 675, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095829", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767398104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767398104" }, { "id": "rs767398104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767398104" }, { "id": "rs767398104", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767398104#frequency_tab" }, { "id": "rs767398104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767398104" } ], "glycoeffect": [], "start_pos": 675, "end_pos": 675, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095830", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767398104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767398104" }, { "id": "rs767398104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767398104" }, { "id": "rs767398104", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767398104#frequency_tab" }, { "id": "rs767398104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767398104" } ], "glycoeffect": [], "start_pos": 675, "end_pos": 675, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095830", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs973661311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs973661311" }, { "id": "rs973661311", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs973661311#frequency_tab" }, { "id": "rs973661311", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs973661311" } ], "glycoeffect": [], "start_pos": 676, "end_pos": 676, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095827", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E676", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs141190850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141190850" }, { "id": "rs141190850", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141190850" }, { "id": "rs141190850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141190850" }, { "id": "rs141190850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141190850#frequency_tab" }, { "id": "rs141190850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141190850" } ], "glycoeffect": [], "start_pos": 677, "end_pos": 677, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095823", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000981162", "site_lbl": "D677", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 678, "end_pos": 678, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095820", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C678", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1018132737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1018132737" }, { "id": "rs1018132737", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1018132737" } ], "glycoeffect": [], "start_pos": 679, "end_pos": 679, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095818", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G679", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 67, "end_pos": 67, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097999", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G67", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483772174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483772174" } ], "glycoeffect": [], "start_pos": 67, "end_pos": 67, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097991_32097999delinsCCTT", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G67", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs774072963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774072963" }, { "id": "rs774072963", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774072963" }, { "id": "rs774072963", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774072963" } ], "glycoeffect": [], "start_pos": 681, "end_pos": 681, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095812", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E681", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 681, "end_pos": 681, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095812", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E681", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780300282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780300282" }, { "id": "rs1780300282", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780300282#frequency_tab" } ], "glycoeffect": [], "start_pos": 682, "end_pos": 682, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095808", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E682", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768510054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768510054" }, { "id": "rs768510054", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768510054" }, { "id": "rs768510054", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768510054#frequency_tab" }, { "id": "rs768510054", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768510054" } ], "glycoeffect": [], "start_pos": 685, "end_pos": 685, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095799", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A685", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1210759964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1210759964" }, { "id": "rs1210759964", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1210759964#frequency_tab" } ], "glycoeffect": [], "start_pos": 685, "end_pos": 685, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095800", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A685", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1460634955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460634955" }, { "id": "rs1460634955", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1460634955#frequency_tab" }, { "id": "rs1460634955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460634955" } ], "glycoeffect": [], "start_pos": 687, "end_pos": 687, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095794", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A687", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1460634955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460634955" }, { "id": "rs1460634955", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1460634955#frequency_tab" }, { "id": "rs1460634955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460634955" } ], "glycoeffect": [], "start_pos": 687, "end_pos": 687, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095794", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A687", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1235353317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235353317" }, { "id": "rs1235353317", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235353317" } ], "glycoeffect": [], "start_pos": 688, "end_pos": 688, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095790", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C688", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1235353317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235353317" }, { "id": "rs1235353317", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235353317" }, { "id": "rs1235353317", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1235353317" } ], "glycoeffect": [], "start_pos": 688, "end_pos": 688, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095790", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C688", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1206089355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206089355" }, { "id": "rs1206089355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1206089355#frequency_tab" }, { "id": "rs1206089355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1206089355" } ], "glycoeffect": [], "start_pos": 689, "end_pos": 689, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095787", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P689", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 68, "end_pos": 68, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097995", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E68", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2483772276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483772276" } ], "glycoeffect": [], "start_pos": 68, "end_pos": 68, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097997", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E68", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775156527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775156527" }, { "id": "rs775156527", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775156527" }, { "id": "rs775156527", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775156527" } ], "glycoeffect": [], "start_pos": 690, "end_pos": 690, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095785", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G690", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201146825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201146825" }, { "id": "rs201146825", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201146825" }, { "id": "rs201146825", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201146825#frequency_tab" }, { "id": "rs201146825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201146825" } ], "glycoeffect": [], "start_pos": 691, "end_pos": 691, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095781", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G691", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1693589260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1693589260" }, { "id": "rs1693589260", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1693589260#frequency_tab" }, { "id": "rs1693589260", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1693589260" } ], "glycoeffect": [], "start_pos": 691, "end_pos": 691, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095782", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G691", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 692, "end_pos": 692, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095778", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "C692", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780297585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780297585" }, { "id": "rs1780297585", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780297585" } ], "glycoeffect": [], "start_pos": 693, "end_pos": 693, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095776", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G693", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 694, "end_pos": 694, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095773", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P694", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 694, "end_pos": 694, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095773", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P694", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 695, "end_pos": 695, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095770", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R695", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs776199920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776199920" }, { "id": "rs776199920", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776199920" }, { "id": "rs776199920", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776199920#frequency_tab" }, { "id": "rs776199920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776199920" } ], "glycoeffect": [], "start_pos": 695, "end_pos": 695, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095769", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R695", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369143302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369143302" }, { "id": "rs369143302", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369143302" }, { "id": "rs369143302", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369143302" }, { "id": "rs369143302", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369143302#frequency_tab" }, { "id": "rs369143302", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369143302" } ], "glycoeffect": [], "start_pos": 695, "end_pos": 695, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095770", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R695", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 696, "end_pos": 696, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095767", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E696", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs771400301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771400301" }, { "id": "rs771400301", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771400301" }, { "id": "rs771400301", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771400301#frequency_tab" }, { "id": "rs771400301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771400301" } ], "glycoeffect": [], "start_pos": 697, "end_pos": 697, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095763", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "L697", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747560876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747560876" }, { "id": "rs747560876", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747560876" }, { "id": "rs747560876", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747560876#frequency_tab" }, { "id": "rs747560876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747560876" } ], "glycoeffect": [], "start_pos": 699, "end_pos": 699, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095758", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R699", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 699, "end_pos": 699, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095757", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R699", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs959472503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs959472503" } ], "glycoeffect": [], "start_pos": 699, "end_pos": 699, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095757", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R699", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs959472503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs959472503" }, { "id": "rs959472503", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs959472503#frequency_tab" }, { "id": "rs959472503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs959472503" } ], "glycoeffect": [], "start_pos": 699, "end_pos": 699, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095757", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R699", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs747560876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747560876" }, { "id": "rs747560876", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747560876" }, { "id": "rs747560876", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747560876#frequency_tab" }, { "id": "rs747560876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747560876" }, { "id": "rs747560876", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747560876" } ], "glycoeffect": [], "start_pos": 699, "end_pos": 699, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095758", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R699", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs766241196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766241196" }, { "id": "rs766241196", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766241196" }, { "id": "rs766241196", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766241196" } ], "glycoeffect": [], "start_pos": 69, "end_pos": 69, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097992", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K69", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1297022056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297022056" }, { "id": "rs1297022056", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297022056" } ], "glycoeffect": [], "start_pos": 69, "end_pos": 69, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097993", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K69", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762669404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762669404" }, { "id": "rs762669404", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs762669404" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 6, "end_pos": 6, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098182", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y6", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355193511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355193511" }, { "id": "rs1355193511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355193511" } ], "glycoeffect": [], "start_pos": 700, "end_pos": 700, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095754", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A700", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 701, "end_pos": 701, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095751", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G701", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1397577306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397577306" }, { "id": "rs1397577306", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1397577306#frequency_tab" }, { "id": "rs1397577306", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1397577306" } ], "glycoeffect": [], "start_pos": 702, "end_pos": 702, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095749", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q702", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1397577306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397577306" }, { "id": "rs1397577306", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1397577306#frequency_tab" }, { "id": "rs1397577306", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1397577306" } ], "glycoeffect": [], "start_pos": 702, "end_pos": 702, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095749", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q702", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377105173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377105173" }, { "id": "rs377105173", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377105173" }, { "id": "rs377105173", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377105173#frequency_tab" }, { "id": "rs377105173", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377105173" } ], "glycoeffect": [], "start_pos": 702, "end_pos": 702, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095748", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q702", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748472103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748472103" }, { "id": "rs748472103", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748472103" }, { "id": "rs748472103", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748472103" } ], "glycoeffect": [], "start_pos": 703, "end_pos": 703, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095746", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C703", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1164021741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164021741" }, { "id": "rs1164021741", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164021741" } ], "glycoeffect": [], "start_pos": 703, "end_pos": 703, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095745", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C703", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780295444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780295444" }, { "id": "rs1780295444", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780295444#frequency_tab" } ], "glycoeffect": [], "start_pos": 704, "end_pos": 704, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095743", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V704", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1020970948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1020970948" }, { "id": "rs1020970948", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1020970948" } ], "glycoeffect": [], "start_pos": 706, "end_pos": 706, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095737", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V706", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780294495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780294495" }, { "id": "rs1780294495", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780294495#frequency_tab" } ], "glycoeffect": [], "start_pos": 707, "end_pos": 707, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095733", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E707", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755223032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755223032" }, { "id": "rs755223032", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755223032" }, { "id": "rs755223032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755223032" } ], "glycoeffect": [], "start_pos": 708, "end_pos": 708, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095730", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G708", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199581373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199581373" }, { "id": "rs199581373", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199581373" }, { "id": "rs199581373", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199581373#frequency_tab" }, { "id": "rs199581373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199581373" } ], "glycoeffect": [], "start_pos": 70, "end_pos": 70, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097990", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q70", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199581373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199581373" }, { "id": "rs199581373", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199581373" }, { "id": "rs199581373", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199581373#frequency_tab" }, { "id": "rs199581373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199581373" } ], "glycoeffect": [], "start_pos": 70, "end_pos": 70, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097990", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q70", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs1780293847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780293847" }, { "id": "rs1780293847", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780293847#frequency_tab" } ], "glycoeffect": [], "start_pos": 710, "end_pos": 710, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095725", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R710", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1480716102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480716102" }, { "id": "rs1480716102", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480716102" } ], "glycoeffect": [], "start_pos": 710, "end_pos": 710, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095724", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R710", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs766469380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766469380" }, { "id": "rs766469380", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766469380" }, { "id": "rs766469380", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766469380#frequency_tab" }, { "id": "rs766469380", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766469380" } ], "glycoeffect": [], "start_pos": 712, "end_pos": 712, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095718", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P712", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780292801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780292801" }, { "id": "rs1780292801", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780292801#frequency_tab" } ], "glycoeffect": [], "start_pos": 714, "end_pos": 714, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095712", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C714", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1294544137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294544137" }, { "id": "rs1294544137", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294544137" } ], "glycoeffect": [], "start_pos": 716, "end_pos": 716, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095705", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I716", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1761812810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1761812810" }, { "id": "rs1761812810", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1761812810" } ], "glycoeffect": [], "start_pos": 717, "end_pos": 717, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095703", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q717", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751521012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751521012" }, { "id": "rs751521012", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751521012" }, { "id": "rs751521012", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751521012" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 718, "end_pos": 718, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095700", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T718", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201922477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201922477" }, { "id": "rs201922477", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201922477" }, { "id": "rs201922477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201922477#frequency_tab" }, { "id": "rs201922477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201922477" } ], "glycoeffect": [], "start_pos": 71, "end_pos": 71, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097988", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V71", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1562873159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562873159" }, { "id": "rs1562873159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1562873159#frequency_tab" }, { "id": "rs1562873159", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1562873159" } ], "glycoeffect": [], "start_pos": 720, "end_pos": 720, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095694", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P720", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 720, "end_pos": 720, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095694", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P720", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs899145372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs899145372" }, { "id": "rs899145372", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs899145372#frequency_tab" } ], "glycoeffect": [], "start_pos": 720, "end_pos": 720, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095695", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P720", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562873153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562873153" }, { "id": "rs1562873153", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562873153" } ], "glycoeffect": [], "start_pos": 721, "end_pos": 721, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095691", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G721", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127286402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127286402" }, { "id": "rs2127286402", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127286402" } ], "glycoeffect": [], "start_pos": 722, "end_pos": 722, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095689", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D722", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780291142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780291142" }, { "id": "rs1780291142", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780291142" } ], "glycoeffect": [], "start_pos": 723, "end_pos": 723, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095685", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C723", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs138771398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138771398" }, { "id": "rs138771398", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138771398" }, { "id": "rs138771398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138771398" }, { "id": "rs138771398", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138771398#frequency_tab" }, { "id": "rs138771398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138771398" } ], "glycoeffect": [], "start_pos": 724, "end_pos": 724, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095683", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000784929", "site_lbl": "R724", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs751040353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751040353" }, { "id": "rs751040353", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751040353" }, { "id": "rs751040353", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751040353#frequency_tab" }, { "id": "rs751040353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751040353" }, { "id": "rs751040353", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751040353" } ], "glycoeffect": [], "start_pos": 724, "end_pos": 724, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095682", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R724", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs751040353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751040353" }, { "id": "rs751040353", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751040353" }, { "id": "rs751040353", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751040353#frequency_tab" }, { "id": "rs751040353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751040353" } ], "glycoeffect": [], "start_pos": 724, "end_pos": 724, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095682", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R724", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1780290288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780290288" }, { "id": "rs1780290288", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780290288" }, { "id": "rs1780290288", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780290288" } ], "glycoeffect": [], "start_pos": 726, "end_pos": 726, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095676", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R726", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1408045007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408045007" }, { "id": "rs1408045007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408045007" } ], "glycoeffect": [], "start_pos": 728, "end_pos": 728, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095671", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E728", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780289701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780289701" }, { "id": "rs1780289701", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780289701" } ], "glycoeffect": [], "start_pos": 729, "end_pos": 729, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095667", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C729", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483749502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483749502" } ], "glycoeffect": [], "start_pos": 730, "end_pos": 730, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095664", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H730", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs759175756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759175756" }, { "id": "rs759175756", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759175756" }, { "id": "rs759175756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759175756" } ], "glycoeffect": [], "start_pos": 730, "end_pos": 730, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095663", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H730", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780289499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780289499" }, { "id": "rs1780289499", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780289499" } ], "glycoeffect": [], "start_pos": 730, "end_pos": 730, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095665", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H730", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780288859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780288859" }, { "id": "rs1780288859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780288859#frequency_tab" } ], "glycoeffect": [], "start_pos": 731, "end_pos": 731, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095661", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D731", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1366497635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366497635" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 733, "end_pos": 733, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095656", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S733", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1366497635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366497635" }, { "id": "rs1366497635", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366497635" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 733, "end_pos": 733, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095656", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S733", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs938202965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs938202965" }, { "id": "rs938202965", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs938202965" } ], "glycoeffect": [], "start_pos": 734, "end_pos": 734, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095652", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C734", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1264056108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264056108" }, { "id": "rs1264056108", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1264056108#frequency_tab" } ], "glycoeffect": [], "start_pos": 736, "end_pos": 736, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095646", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C736", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1264056108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264056108" } ], "glycoeffect": [], "start_pos": 736, "end_pos": 736, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095646", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C736", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1197572454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197572454" }, { "id": "rs1197572454", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1197572454#frequency_tab" }, { "id": "rs1197572454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197572454" } ], "glycoeffect": [], "start_pos": 738, "end_pos": 738, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095641", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D738", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773801243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773801243" }, { "id": "rs773801243", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773801243" }, { "id": "rs773801243", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773801243" } ], "glycoeffect": [], "start_pos": 73, "end_pos": 73, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097982", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F73", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372262597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372262597" }, { "id": "rs372262597", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372262597" }, { "id": "rs372262597", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372262597#frequency_tab" }, { "id": "rs372262597", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372262597" } ], "glycoeffect": [], "start_pos": 742, "end_pos": 742, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095629", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G742", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372262597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372262597" }, { "id": "rs372262597", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372262597" }, { "id": "rs372262597", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372262597#frequency_tab" }, { "id": "rs372262597", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372262597" } ], "glycoeffect": [], "start_pos": 742, "end_pos": 742, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095629", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G742", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1223893418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223893418" }, { "id": "rs1223893418", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223893418" } ], "glycoeffect": [], "start_pos": 746, "end_pos": 746, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095616", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G746", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1223893418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223893418" }, { "id": "rs1223893418", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223893418" } ], "glycoeffect": [], "start_pos": 746, "end_pos": 746, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095616", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G746", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772687581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772687581" }, { "id": "rs772687581", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772687581" }, { "id": "rs772687581", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772687581#frequency_tab" }, { "id": "rs772687581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772687581" } ], "glycoeffect": [], "start_pos": 746, "end_pos": 746, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095617", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G746", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 747, "end_pos": 747, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095614", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E747", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1260586605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260586605" }, { "id": "rs1260586605", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1260586605#frequency_tab" } ], "glycoeffect": [], "start_pos": 748, "end_pos": 748, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095191", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E748", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780262410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780262410" }, { "id": "rs1780262410", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780262410#frequency_tab" } ], "glycoeffect": [], "start_pos": 749, "end_pos": 749, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095189", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V749", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780507978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780507978" }, { "id": "rs1780507978", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780507978#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097979", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T74", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1198010285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198010285" }, { "id": "rs1198010285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1198010285" }, { "id": "rs1198010285", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1198010285" } ], "glycoeffect": [], "start_pos": 750, "end_pos": 750, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095186", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P750", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1477314352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477314352" }, { "id": "rs1477314352", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1477314352#frequency_tab" } ], "glycoeffect": [], "start_pos": 752, "end_pos": 752, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095178", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I752", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1369217785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1369217785" }, { "id": "rs1369217785", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1369217785" } ], "glycoeffect": [], "start_pos": 753, "end_pos": 753, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095177", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E753", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 753, "end_pos": 753, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095177", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E753", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1188728443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188728443" }, { "id": "rs1188728443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1188728443" } ], "glycoeffect": [], "start_pos": 754, "end_pos": 754, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095173", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G754", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562872430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562872430" }, { "id": "rs1562872430", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562872430" } ], "glycoeffect": [], "start_pos": 754, "end_pos": 754, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095174", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G754", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764056769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764056769" }, { "id": "rs764056769", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764056769" }, { "id": "rs764056769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764056769" }, { "id": "rs764056769", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764056769" } ], "glycoeffect": [], "start_pos": 755, "end_pos": 755, "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095169", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M755", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1190185145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190185145" }, { "id": "rs1190185145", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1190185145" } ], "glycoeffect": [], "start_pos": 757, "end_pos": 757, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095163", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M757", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1425538674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425538674" }, { "id": "rs1425538674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1425538674#frequency_tab" } ], "glycoeffect": [], "start_pos": 757, "end_pos": 757, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095164", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M757", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 759, "end_pos": 759, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095159", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L759", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 75, "end_pos": 75, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097976", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H75", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1325875762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325875762" }, { "id": "rs1325875762", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325875762" } ], "glycoeffect": [], "start_pos": 760, "end_pos": 760, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095154", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L760", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs895586312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs895586312" }, { "id": "rs895586312", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs895586312#frequency_tab" }, { "id": "rs895586312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs895586312" } ], "glycoeffect": [], "start_pos": 760, "end_pos": 760, "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095155", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L760", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1047449983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1047449983" }, { "id": "rs1047449983", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1047449983" }, { "id": "rs1047449983", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1047449983" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 763, "end_pos": 763, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095146", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T763", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1232589427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232589427" }, { "id": "rs1232589427", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1232589427#frequency_tab" }, { "id": "rs1232589427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232589427" } ], "glycoeffect": [], "start_pos": 766, "end_pos": 766, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095138", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R766", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs920263701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs920263701" }, { "id": "rs920263701", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs920263701#frequency_tab" }, { "id": "rs920263701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs920263701" }, { "id": "rs920263701", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs920263701" } ], "glycoeffect": [], "start_pos": 766, "end_pos": 766, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095137", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R766", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1232589427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232589427" }, { "id": "rs1232589427", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1232589427#frequency_tab" }, { "id": "rs1232589427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232589427" }, { "id": "rs1232589427", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1232589427" } ], "glycoeffect": [], "start_pos": 766, "end_pos": 766, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095138", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R766", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 768, "end_pos": 768, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095131", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E768", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1382625728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382625728" }, { "id": "rs1382625728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382625728" } ], "glycoeffect": [], "start_pos": 769, "end_pos": 769, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095127", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W769", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1297626988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297626988" }, { "id": "rs1297626988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297626988" } ], "glycoeffect": [], "start_pos": 769, "end_pos": 769, "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095128", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W769", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768199265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768199265" }, { "id": "rs768199265", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768199265" }, { "id": "rs768199265", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768199265#frequency_tab" }, { "id": "rs768199265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768199265" }, { "id": "rs768199265", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768199265" } ], "glycoeffect": [], "start_pos": 76, "end_pos": 76, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097973", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R76", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "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": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs748739924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748739924" }, { "id": "rs748739924", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748739924" }, { "id": "rs748739924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748739924#frequency_tab" }, { "id": "rs748739924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748739924" } ], "glycoeffect": [], "start_pos": 76, "end_pos": 76, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097972", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R76", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs199705832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199705832" }, { "id": "rs199705832", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199705832#frequency_tab" }, { "id": "rs199705832", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199705832" }, { "id": "rs199705832", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199705832" } ], "glycoeffect": [], "start_pos": 771, "end_pos": 771, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095122", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P771", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs199705832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199705832" }, { "id": "rs199705832", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199705832#frequency_tab" }, { "id": "rs199705832", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199705832" } ], "glycoeffect": [], "start_pos": 771, "end_pos": 771, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095122", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P771", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780257541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780257541" }, { "id": "rs1780257541", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780257541" } ], "glycoeffect": [], "start_pos": 771, "end_pos": 771, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095123", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P771", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1470766443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470766443" }, { "id": "rs1470766443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1470766443" } ], "glycoeffect": [], "start_pos": 772, "end_pos": 772, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095119", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A772", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1406333249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406333249" }, { "id": "rs1406333249", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406333249" } ], "glycoeffect": [], "start_pos": 773, "end_pos": 773, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095116", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P773", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1171529099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171529099" }, { "id": "rs1171529099", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171529099" } ], "glycoeffect": [], "start_pos": 775, "end_pos": 775, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095111", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P775", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1171529099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171529099" }, { "id": "rs1171529099", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171529099" } ], "glycoeffect": [], "start_pos": 775, "end_pos": 775, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095111", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P775", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs527606803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527606803" }, { "id": "rs527606803", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527606803" }, { "id": "rs527606803", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527606803" }, { "id": "rs527606803", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs527606803#frequency_tab" }, { "id": "rs527606803", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs527606803" } ], "glycoeffect": [], "start_pos": 776, "end_pos": 776, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095108", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V776", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1173179481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173179481" }, { "id": "rs1173179481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173179481" } ], "glycoeffect": [], "start_pos": 778, "end_pos": 778, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095102", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A778", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1210055900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1210055900" }, { "id": "rs1210055900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1210055900#frequency_tab" }, { "id": "rs1210055900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1210055900" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 779, "end_pos": 779, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095098", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y779", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1233087781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233087781" }, { "id": "rs1233087781", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1233087781#frequency_tab" }, { "id": "rs1233087781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233087781" } ], "glycoeffect": [], "start_pos": 780, "end_pos": 780, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095094", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E780", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1429558721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1429558721" }, { "id": "rs1429558721", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1429558721#frequency_tab" }, { "id": "rs1429558721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1429558721" } ], "glycoeffect": [], "start_pos": 782, "end_pos": 782, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095089", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q782", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1247829551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247829551" }, { "id": "rs1247829551", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1247829551#frequency_tab" }, { "id": "rs1247829551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1247829551" } ], "glycoeffect": [], "start_pos": 784, "end_pos": 784, "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095084", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I784", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 785, "end_pos": 785, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095080", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P785", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 785, "end_pos": 785, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095080", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P785", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765025354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765025354" }, { "id": "rs765025354", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765025354" }, { "id": "rs765025354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765025354" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 786, "end_pos": 786, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095078", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T786", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs759186959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759186959" }, { "id": "rs759186959", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759186959" }, { "id": "rs759186959", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759186959" }, { "id": "rs759186959", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759186959#frequency_tab" }, { "id": "rs759186959", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759186959" }, { "id": "rs759186959", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759186959" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 786, "end_pos": 786, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095077", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T786", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs759186959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759186959" }, { "id": "rs759186959", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759186959" }, { "id": "rs759186959", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759186959" }, { "id": "rs759186959", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759186959#frequency_tab" }, { "id": "rs759186959", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759186959" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 786, "end_pos": 786, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095077", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T786", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1309120599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309120599" }, { "id": "rs1309120599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1309120599#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 787, "end_pos": 787, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089379", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T787", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767149489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767149489" }, { "id": "rs767149489", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767149489" }, { "id": "rs767149489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767149489" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 787, "end_pos": 787, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089378", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T787", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761344131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761344131" }, { "id": "rs761344131", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761344131" }, { "id": "rs761344131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761344131" } ], "glycoeffect": [], "start_pos": 788, "end_pos": 788, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089376", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E788", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367834992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367834992" }, { "id": "rs367834992", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs367834992" }, { "id": "rs367834992", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367834992" }, { "id": "rs367834992", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367834992#frequency_tab" }, { "id": "rs367834992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367834992" } ], "glycoeffect": [], "start_pos": 789, "end_pos": 789, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089372", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G789", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1321595318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321595318" }, { "id": "rs1321595318", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321595318" }, { "id": "rs1321595318", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1321595318" } ], "glycoeffect": [], "start_pos": 790, "end_pos": 790, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089369", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A790", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 791, "end_pos": 791, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089366", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S791", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "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": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs112581362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112581362" }, { "id": "rs112581362", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs112581362" }, { "id": "rs112581362", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112581362" }, { "id": "rs112581362", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs112581362#frequency_tab" }, { "id": "rs112581362", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs112581362" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 791, "end_pos": 791, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089365", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S791", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779976480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779976480" }, { "id": "rs1779976480", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779976480#frequency_tab" } ], "glycoeffect": [], "start_pos": 792, "end_pos": 792, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089363", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P792", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1386695678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386695678" }, { "id": "rs1386695678", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1386695678#frequency_tab" }, { "id": "rs1386695678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386695678" } ], "glycoeffect": [], "start_pos": 792, "end_pos": 792, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089364", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P792", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1386695678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386695678" }, { "id": "rs1386695678", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1386695678#frequency_tab" }, { "id": "rs1386695678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386695678" } ], "glycoeffect": [], "start_pos": 792, "end_pos": 792, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089364", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P792", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1178726151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178726151" }, { "id": "rs1178726151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178726151" } ], "glycoeffect": [], "start_pos": 793, "end_pos": 793, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089361", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P793", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 794, "end_pos": 794, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089357", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F794", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2127273992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127273992" }, { "id": "rs2127273992", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127273992" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 795, "end_pos": 795, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089354", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T795", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1424442086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424442086" }, { "id": "rs1424442086", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1424442086#frequency_tab" }, { "id": "rs1424442086", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424442086" } ], "glycoeffect": [], "start_pos": 796, "end_pos": 796, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089351", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A796", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs201123945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201123945" }, { "id": "rs201123945", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201123945" }, { "id": "rs201123945", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201123945#frequency_tab" }, { "id": "rs201123945", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201123945" } ], "glycoeffect": [], "start_pos": 797, "end_pos": 797, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089348", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R797", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs563472994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563472994" }, { "id": "rs563472994", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563472994" }, { "id": "rs563472994", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563472994" }, { "id": "rs563472994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563472994#frequency_tab" }, { "id": "rs563472994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563472994" }, { "id": "rs563472994", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563472994" } ], "glycoeffect": [], "start_pos": 797, "end_pos": 797, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089349", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R797", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1779974704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779974704" }, { "id": "rs1779974704", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779974704#frequency_tab" }, { "id": "rs1779974704", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779974704" } ], "glycoeffect": [], "start_pos": 798, "end_pos": 798, "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089346", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V798", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs747041616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747041616" }, { "id": "rs747041616", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747041616" }, { "id": "rs747041616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747041616" } ], "glycoeffect": [], "start_pos": 799, "end_pos": 799, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089342", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P799", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747041616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747041616" }, { "id": "rs747041616", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747041616" }, { "id": "rs747041616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747041616" } ], "glycoeffect": [], "start_pos": 799, "end_pos": 799, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089342", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P799", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780737052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780737052" }, { "id": "rs780737052", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780737052" }, { "id": "rs780737052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780737052" } ], "glycoeffect": [], "start_pos": 79, "end_pos": 79, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097964", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L79", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582481732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582481732" }, { "id": "rs1582481732", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582481732" } ], "glycoeffect": [], "start_pos": 7, "end_pos": 7, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098179", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A7", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs3134958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3134958" }, { "id": "rs3134958", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs3134958" }, { "id": "rs3134958", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs3134958" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 800, "end_pos": 800, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089338", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S800", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1562865804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562865804" }, { "id": "rs1562865804", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562865804" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 801, "end_pos": 801, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089336", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S801", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562865804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562865804" }, { "id": "rs1562865804", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562865804" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 801, "end_pos": 801, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089336", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S801", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778869370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778869370" }, { "id": "rs778869370", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778869370" }, { "id": "rs778869370", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778869370#frequency_tab" }, { "id": "rs778869370", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778869370" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 801, "end_pos": 801, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089337", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S801", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754838830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754838830" }, { "id": "rs754838830", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754838830" }, { "id": "rs754838830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754838830" }, { "id": "rs754838830", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754838830" } ], "glycoeffect": [], "start_pos": 802, "end_pos": 802, "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089334", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A802", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2127273900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127273900" }, { "id": "rs2127273900", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127273900" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 803, "end_pos": 803, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089330", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S803", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779972815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779972815" }, { "id": "rs1779972815", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779972815#frequency_tab" }, { "id": "rs1779972815", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779972815" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 805, "end_pos": 805, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089324", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y805", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 808, "end_pos": 808, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089315", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R808", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 808, "end_pos": 808, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089315", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R808", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 810, "end_pos": 810, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089310", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L810", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 811, "end_pos": 811, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089306", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A811", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1218015930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218015930" }, { "id": "rs1218015930", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218015930" } ], "glycoeffect": [], "start_pos": 811, "end_pos": 811, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089307", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A811", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779972011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779972011" }, { "id": "rs1779972011", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779972011#frequency_tab" } ], "glycoeffect": [], "start_pos": 812, "end_pos": 812, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089304", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P812", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3134959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3134959" }, { "id": "rs3134959", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs3134959" } ], "glycoeffect": [], "start_pos": 812, "end_pos": 812, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089303", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P812", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779971147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779971147" }, { "id": "rs1779971147", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779971147#frequency_tab" } ], "glycoeffect": [], "start_pos": 813, "end_pos": 813, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089300", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G813", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1228083465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228083465" }, { "id": "rs1228083465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228083465" } ], "glycoeffect": [], "start_pos": 813, "end_pos": 813, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089301", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G813", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1363373456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363373456" }, { "id": "rs1363373456", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363373456" } ], "glycoeffect": [], "start_pos": 814, "end_pos": 814, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089298", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q814", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs954331287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs954331287" }, { "id": "rs954331287", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs954331287#frequency_tab" }, { "id": "rs954331287", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs954331287" } ], "glycoeffect": [], "start_pos": 814, "end_pos": 814, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089297", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q814", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs954331287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs954331287" }, { "id": "rs954331287", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs954331287#frequency_tab" }, { "id": "rs954331287", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs954331287" } ], "glycoeffect": [], "start_pos": 814, "end_pos": 814, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089297", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q814", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 815, "end_pos": 815, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089295", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E815", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs750109163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750109163" }, { "id": "rs750109163", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750109163" }, { "id": "rs750109163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750109163" } ], "glycoeffect": [], "start_pos": 817, "end_pos": 817, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089288", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q817", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1332228340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332228340" }, { "id": "rs1332228340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332228340" } ], "glycoeffect": [], "start_pos": 818, "end_pos": 818, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089286", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V818", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761434355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761434355" }, { "id": "rs761434355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761434355" }, { "id": "rs761434355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761434355" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 819, "end_pos": 819, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089282", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T819", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761434355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761434355" }, { "id": "rs761434355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761434355" }, { "id": "rs761434355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761434355" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 819, "end_pos": 819, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089282", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T819", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097957", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P81", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs757484516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757484516" }, { "id": "rs757484516", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757484516" }, { "id": "rs757484516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757484516#frequency_tab" }, { "id": "rs757484516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757484516" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097957", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P81", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757484516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757484516" }, { "id": "rs757484516", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757484516" }, { "id": "rs757484516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757484516#frequency_tab" }, { "id": "rs757484516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757484516" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097957", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P81", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs746282620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746282620" }, { "id": "rs746282620", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746282620" }, { "id": "rs746282620", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746282620" }, { "id": "rs746282620", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746282620" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097958", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P81", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs749890642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749890642" }, { "id": "rs749890642", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749890642" }, { "id": "rs749890642", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749890642#frequency_tab" }, { "id": "rs749890642", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749890642" }, { "id": "rs749890642", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749890642" } ], "glycoeffect": [], "start_pos": 821, "end_pos": 821, "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089277", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R821", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs370610985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370610985" }, { "id": "rs370610985", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370610985" }, { "id": "rs370610985", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370610985#frequency_tab" }, { "id": "rs370610985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370610985" } ], "glycoeffect": [], "start_pos": 821, "end_pos": 821, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089276", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R821", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs574695729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574695729" }, { "id": "rs574695729", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574695729" }, { "id": "rs574695729", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574695729" } ], "glycoeffect": [], "start_pos": 822, "end_pos": 822, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089273", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A822", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376984913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376984913" }, { "id": "rs376984913", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376984913" }, { "id": "rs376984913", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376984913#frequency_tab" }, { "id": "rs376984913", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376984913" } ], "glycoeffect": [], "start_pos": 823, "end_pos": 823, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089271", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L823", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs776859624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776859624" }, { "id": "rs776859624", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776859624" }, { "id": "rs776859624", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776859624#frequency_tab" }, { "id": "rs776859624", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776859624" } ], "glycoeffect": [], "start_pos": 824, "end_pos": 824, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089268", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R824", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs771118047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771118047" }, { "id": "rs771118047", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771118047" }, { "id": "rs771118047", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771118047" } ], "glycoeffect": [], "start_pos": 824, "end_pos": 824, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089267", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R824", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1275971443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275971443" }, { "id": "rs1275971443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1275971443" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 827, "end_pos": 827, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089259", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S827", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3134960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3134960" }, { "id": "rs3134960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3134960" }, { "id": "rs3134960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs3134960" }, { "id": "rs1275971443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275971443" }, { "id": "rs1275971443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1275971443" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 827, "end_pos": 827, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089257", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S827", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483721798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483721798" } ], "glycoeffect": [], "start_pos": 828, "end_pos": 828, "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089256", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W828", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147172260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147172260" }, { "id": "rs147172260", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147172260" }, { "id": "rs147172260", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147172260" }, { "id": "rs147172260", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147172260#frequency_tab" }, { "id": "rs147172260", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147172260" } ], "glycoeffect": [], "start_pos": 829, "end_pos": 829, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089253", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "G829", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1780506441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780506441" }, { "id": "rs1780506441", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780506441#frequency_tab" }, { "id": "rs1780506441", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780506441" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 82, "end_pos": 82, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097954", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S82", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 830, "end_pos": 830, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089250", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L830", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 830, "end_pos": 830, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089250", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L830", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1737135461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1737135461" }, { "id": "rs1737135461", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1737135461" } ], "glycoeffect": [], "start_pos": 830, "end_pos": 830, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089249", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L830", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1315192624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315192624" }, { "id": "rs1315192624", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315192624" } ], "glycoeffect": [], "start_pos": 832, "end_pos": 832, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089244", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A832", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 835, "end_pos": 835, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089234", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T835", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 837, "end_pos": 837, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089228", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T837", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs540991019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540991019" }, { "id": "rs540991019", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs540991019" }, { "id": "rs540991019", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540991019" }, { "id": "rs540991019", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs540991019#frequency_tab" }, { "id": "rs540991019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs540991019" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 838, "end_pos": 838, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089225", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T838", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 839, "end_pos": 839, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089047", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M839", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs1779956833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779956833" }, { "id": "rs1779956833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779956833#frequency_tab" } ], "glycoeffect": [], "start_pos": 840, "end_pos": 840, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089045", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I840", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs975153087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs975153087" }, { "id": "rs975153087", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs975153087" }, { "id": "rs975153087", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs975153087" } ], "glycoeffect": [], "start_pos": 841, "end_pos": 841, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089043", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D841", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1293934709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293934709" }, { "id": "rs1293934709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293934709" } ], "glycoeffect": [], "start_pos": 843, "end_pos": 843, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089036", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P843", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1187997184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187997184" }, { "id": "rs1187997184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1187997184#frequency_tab" } ], "glycoeffect": [], "start_pos": 844, "end_pos": 844, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089033", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q844", "disease": [ { "disease_id": "DOID:14757", "recommended_name": { "id": "DOID:14757", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14757", "name": "Ehlers-Danlos syndrome hypermobility type", "description": "An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity." }, "synonyms": [ { "id": "DOID:14757", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14757", "name": "Ehlers-Danlos syndrome, type 3", "description": "" }, { "id": "DOID:14757", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14757", "name": "type III Ehlers-Danlos syndrome", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, hypermobility type", "description": "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "EDS III", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "EDSHMB", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome type 3", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome type 3 (formerly)", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, hypermobile type", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, hypermobility type", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, type 3", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "Ehlers-Danlos syndrome, type III", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "HT-EDS", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "EDS3 (formerly)", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "hEDS", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "hypermobile EDS", "description": "" }, { "id": "MONDO:0007523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007523", "name": "hypermobile Ehlers-Danlos syndrome", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "14757", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14757" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1457212828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457212828" }, { "id": "rs1457212828", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457212828#frequency_tab" }, { "id": "rs1457212828", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457212828" } ], "glycoeffect": [], "start_pos": 847, "end_pos": 847, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089025", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R847", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1457212828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457212828" }, { "id": "rs1457212828", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457212828#frequency_tab" }, { "id": "rs1457212828", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457212828" } ], "glycoeffect": [], "start_pos": 847, "end_pos": 847, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089025", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R847", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200283439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200283439" }, { "id": "rs200283439", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200283439" }, { "id": "rs200283439", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200283439#frequency_tab" }, { "id": "rs200283439", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200283439" } ], "glycoeffect": [], "start_pos": 847, "end_pos": 847, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089024", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R847", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs963747561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs963747561" }, { "id": "rs963747561", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs963747561#frequency_tab" }, { "id": "rs963747561", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs963747561" } ], "glycoeffect": [], "start_pos": 848, "end_pos": 848, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089022", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V848", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1187865276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187865276" }, { "id": "rs1187865276", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1187865276" } ], "glycoeffect": [], "start_pos": 849, "end_pos": 849, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089018", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V849", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs759942418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759942418" }, { "id": "rs759942418", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759942418" }, { "id": "rs759942418", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759942418#frequency_tab" }, { "id": "rs759942418", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759942418" }, { "id": "rs759942418", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759942418" } ], "glycoeffect": [], "start_pos": 853, "end_pos": 853, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32089006", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P853", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs759942418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759942418" }, { "id": "rs759942418", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759942418" }, { "id": "rs759942418", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759942418#frequency_tab" }, { "id": "rs759942418", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759942418" } ], "glycoeffect": [], "start_pos": 853, "end_pos": 853, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32089006", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P853", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776947665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776947665" }, { "id": "rs776947665", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776947665" }, { "id": "rs776947665", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776947665" } ], "glycoeffect": [], "start_pos": 856, "end_pos": 856, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088998", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L856", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766652442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766652442" }, { "id": "rs766652442", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766652442" }, { "id": "rs766652442", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766652442#frequency_tab" }, { "id": "rs766652442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766652442" } ], "glycoeffect": [], "start_pos": 856, "end_pos": 856, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088997", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L856", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1245283456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1245283456" }, { "id": "rs1245283456", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1245283456" } ], "glycoeffect": [], "start_pos": 860, "end_pos": 860, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088984", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W860", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1210855985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1210855985" }, { "id": "rs1210855985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1210855985" } ], "glycoeffect": [], "start_pos": 861, "end_pos": 861, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088982", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L861", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs570806090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570806090" }, { "id": "rs570806090", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570806090" }, { "id": "rs570806090", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570806090" }, { "id": "rs570806090", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs570806090#frequency_tab" }, { "id": "rs570806090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs570806090" }, { "id": "rs570806090", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570806090" } ], "glycoeffect": [], "start_pos": 862, "end_pos": 862, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088980", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R862", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] }, { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs552641745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552641745" }, { "id": "rs552641745", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs552641745" }, { "id": "rs552641745", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs552641745" }, { "id": "rs552641745", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs552641745#frequency_tab" }, { "id": "rs552641745", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs552641745" }, { "id": "rs552641745", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs552641745" } ], "glycoeffect": [], "start_pos": 862, "end_pos": 862, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088979", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R862", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs1251944211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251944211" }, { "id": "rs1251944211", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1251944211" } ], "glycoeffect": [], "start_pos": 863, "end_pos": 863, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088976", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P863", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 863, "end_pos": 863, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088977", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P863", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748223125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748223125" }, { "id": "rs748223125", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748223125" }, { "id": "rs748223125", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748223125#frequency_tab" }, { "id": "rs748223125", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748223125" } ], "glycoeffect": [], "start_pos": 864, "end_pos": 864, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088974", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q864", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs748223125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748223125" }, { "id": "rs748223125", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748223125" }, { "id": "rs748223125", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748223125#frequency_tab" }, { "id": "rs748223125", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748223125" } ], "glycoeffect": [], "start_pos": 864, "end_pos": 864, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088974", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q864", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1301877220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301877220" }, { "id": "rs1301877220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301877220" } ], "glycoeffect": [], "start_pos": 865, "end_pos": 865, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088971", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A865", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 865, "end_pos": 865, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088970", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A865", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1779951090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779951090" }, { "id": "rs1779951090", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779951090#frequency_tab" } ], "glycoeffect": [], "start_pos": 866, "end_pos": 866, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088966", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E866", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 866, "end_pos": 866, "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088968", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E866", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1779951284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779951284" }, { "id": "rs1779951284", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779951284" } ], "glycoeffect": [], "start_pos": 866, "end_pos": 866, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088967", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E866", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483720099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483720099" } ], "glycoeffect": [], "start_pos": 867, "end_pos": 867, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088965", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V867", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1386088186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386088186" }, { "id": "rs1386088186", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1386088186#frequency_tab" }, { "id": "rs1386088186", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386088186" } ], "glycoeffect": [], "start_pos": 869, "end_pos": 869, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088959", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R869", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs369269279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369269279" }, { "id": "rs369269279", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369269279" }, { "id": "rs369269279", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369269279#frequency_tab" }, { "id": "rs369269279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369269279" }, { "id": "rs369269279", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369269279" } ], "glycoeffect": [], "start_pos": 869, "end_pos": 869, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088958", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R869", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 86, "end_pos": 86, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097942", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G86", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 86, "end_pos": 86, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097943", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G86", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769751541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769751541" }, { "id": "rs769751541", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769751541" }, { "id": "rs769751541", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769751541" } ], "glycoeffect": [], "start_pos": 870, "end_pos": 870, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088955", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F870", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781119063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781119063" }, { "id": "rs781119063", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781119063" }, { "id": "rs781119063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781119063" } ], "glycoeffect": [], "start_pos": 871, "end_pos": 871, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088952", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V871", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745699489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745699489" }, { "id": "rs745699489", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745699489" }, { "id": "rs745699489", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745699489#frequency_tab" }, { "id": "rs745699489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745699489" } ], "glycoeffect": [], "start_pos": 871, "end_pos": 871, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088953", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V871", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs204900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs204900" }, { "id": "rs204900", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs204900" }, { "id": "rs204900", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs204900" }, { "id": "rs204900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs204900#frequency_tab" }, { "id": "rs204900", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs204900" }, { "id": "rs204900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs204900" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 873, "end_pos": 873, "sequence_org": "S", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32088803", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "0.1853", "site_lbl": "S873", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs865835265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865835265" }, { "id": "rs865835265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs865835265" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 873, "end_pos": 873, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088946", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S873", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs865835265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865835265" }, { "id": "rs865835265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs865835265" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 873, "end_pos": 873, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088946", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S873", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs990433897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs990433897" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 874, "end_pos": 874, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088943", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y874", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs990433897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs990433897" }, { "id": "rs990433897", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs990433897#frequency_tab" } ], "glycoeffect": [], "start_pos": 874, "end_pos": 874, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088943", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y874", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs377480086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377480086" }, { "id": "rs377480086", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377480086" }, { "id": "rs377480086", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377480086" }, { "id": "rs377480086", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377480086#frequency_tab" }, { "id": "rs377480086", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377480086" } ], "glycoeffect": [], "start_pos": 875, "end_pos": 875, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088941", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V875", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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", "germline" ] }, { "evidence": [ { "id": "rs377480086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377480086" } ], "glycoeffect": [], "start_pos": 875, "end_pos": 875, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088941", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V875", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779948982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779948982" }, { "id": "rs1779948982", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779948982" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 876, "end_pos": 876, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088936", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S876", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201647307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201647307" }, { "id": "rs201647307", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201647307" }, { "id": "rs201647307", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201647307" }, { "id": "rs201647307", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201647307#frequency_tab" }, { "id": "rs201647307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201647307" } ], "glycoeffect": [], "start_pos": 878, "end_pos": 878, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088931", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "G878", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs570126253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570126253" }, { "id": "rs570126253", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570126253" }, { "id": "rs570126253", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570126253" }, { "id": "rs570126253", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs570126253#frequency_tab" }, { "id": "rs570126253", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs570126253" } ], "glycoeffect": [], "start_pos": 878, "end_pos": 878, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088932", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "G878", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765701906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765701906" }, { "id": "rs765701906", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765701906" }, { "id": "rs765701906", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765701906#frequency_tab" }, { "id": "rs765701906", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765701906" } ], "glycoeffect": [], "start_pos": 879, "end_pos": 879, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088927", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N879", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs971564159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs971564159" }, { "id": "rs971564159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs971564159#frequency_tab" } ], "glycoeffect": [], "start_pos": 87, "end_pos": 87, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097939", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C87", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747238301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747238301" }, { "id": "rs747238301", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747238301" }, { "id": "rs747238301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747238301" } ], "glycoeffect": [], "start_pos": 87, "end_pos": 87, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097938", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C87", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs971564159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs971564159" }, { "id": "rs971564159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs971564159#frequency_tab" } ], "glycoeffect": [], "start_pos": 87, "end_pos": 87, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097939", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C87", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 880, "end_pos": 880, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088924", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q880", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1488029406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488029406" }, { "id": "rs1488029406", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1488029406#frequency_tab" }, { "id": "rs1488029406", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1488029406" } ], "glycoeffect": [], "start_pos": 881, "end_pos": 881, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088922", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R881", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483719807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483719807" } ], "glycoeffect": [], "start_pos": 882, "end_pos": 882, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088920", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V882", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1206967810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206967810" }, { "id": "rs1206967810", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1206967810" } ], "glycoeffect": [], "start_pos": 883, "end_pos": 883, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088916", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R883", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs577302790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577302790" }, { "id": "rs577302790", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577302790" }, { "id": "rs577302790", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs577302790#frequency_tab" }, { "id": "rs577302790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577302790" } ], "glycoeffect": [], "start_pos": 883, "end_pos": 883, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088915", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R883", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 886, "end_pos": 886, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088907", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V886", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs766746150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766746150" }, { "id": "rs766746150", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766746150" }, { "id": "rs766746150", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766746150#frequency_tab" }, { "id": "rs766746150", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766746150" } ], "glycoeffect": [], "start_pos": 886, "end_pos": 886, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088908", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V886", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760962575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760962575" }, { "id": "rs760962575", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760962575" }, { "id": "rs760962575", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760962575#frequency_tab" }, { "id": "rs760962575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760962575" } ], "glycoeffect": [], "start_pos": 887, "end_pos": 887, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088905", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P887", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760962575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760962575" }, { "id": "rs760962575", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760962575" }, { "id": "rs760962575", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760962575#frequency_tab" }, { "id": "rs760962575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760962575" } ], "glycoeffect": [], "start_pos": 887, "end_pos": 887, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088905", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P887", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368497853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368497853" }, { "id": "rs368497853", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368497853" }, { "id": "rs368497853", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368497853" }, { "id": "rs368497853", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368497853#frequency_tab" }, { "id": "rs368497853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368497853" } ], "glycoeffect": [], "start_pos": 888, "end_pos": 888, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088902", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P888", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs368497853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368497853" }, { "id": "rs368497853", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368497853" }, { "id": "rs368497853", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368497853" }, { "id": "rs368497853", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368497853#frequency_tab" }, { "id": "rs368497853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368497853" } ], "glycoeffect": [], "start_pos": 888, "end_pos": 888, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088902", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P888", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 88, "end_pos": 88, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097936", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P88", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1448988045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448988045" }, { "id": "rs1448988045", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448988045" } ], "glycoeffect": [], "start_pos": 88, "end_pos": 88, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097937", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P88", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1318144876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318144876" }, { "id": "rs1318144876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318144876" } ], "glycoeffect": [], "start_pos": 890, "end_pos": 890, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088895", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A890", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 891, "end_pos": 891, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088892", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D891", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs761852401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761852401" }, { "id": "rs761852401", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761852401" }, { "id": "rs761852401", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761852401#frequency_tab" }, { "id": "rs761852401", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761852401" } ], "glycoeffect": [], "start_pos": 892, "end_pos": 892, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088890", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G892", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs114145264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs114145264" }, { "id": "rs114145264", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs114145264" }, { "id": "rs114145264", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs114145264" }, { "id": "rs114145264", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs114145264#frequency_tab" }, { "id": "rs114145264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs114145264" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 893, "end_pos": 893, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088886", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "T893", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483719398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483719398" } ], "glycoeffect": [], "start_pos": 898, "end_pos": 898, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088872", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L898", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375530442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375530442" }, { "id": "rs375530442", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375530442" }, { "id": "rs375530442", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375530442#frequency_tab" }, { "id": "rs375530442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375530442" } ], "glycoeffect": [], "start_pos": 899, "end_pos": 899, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088869", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M899", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127294185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127294185" }, { "id": "rs2127294185", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127294185" } ], "glycoeffect": [], "start_pos": 89, "end_pos": 89, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097933", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P89", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1343497231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343497231" }, { "id": "rs1343497231", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1343497231" } ], "glycoeffect": [], "start_pos": 8, "end_pos": 8, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098177", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L8", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779942876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779942876" }, { "id": "rs1779942876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779942876" } ], "glycoeffect": [], "start_pos": 901, "end_pos": 901, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088862", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G901", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs759368217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759368217" }, { "id": "rs759368217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759368217#frequency_tab" }, { "id": "rs759368217", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759368217" } ], "glycoeffect": [], "start_pos": 901, "end_pos": 901, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088863", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G901", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs372869340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372869340" }, { "id": "rs372869340", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372869340" }, { "id": "rs372869340", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372869340#frequency_tab" }, { "id": "rs372869340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372869340" } ], "glycoeffect": [], "start_pos": 902, "end_pos": 902, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088860", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V902", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 903, "end_pos": 903, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088857", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E903", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs189944258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189944258" }, { "id": "rs189944258", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189944258" }, { "id": "rs189944258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189944258" }, { "id": "rs189944258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs189944258#frequency_tab" }, { "id": "rs189944258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs189944258" } ], "glycoeffect": [], "start_pos": 906, "end_pos": 906, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088848", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00156986", "site_lbl": "V906", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 908, "end_pos": 908, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088841", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V908", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "rs777338472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777338472" }, { "id": "rs777338472", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777338472" }, { "id": "rs777338472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777338472" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 909, "end_pos": 909, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088838", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T909", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 90, "end_pos": 90, "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097930", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G90", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs771724021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771724021" }, { "id": "rs771724021", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771724021" }, { "id": "rs771724021", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771724021" } ], "glycoeffect": [], "start_pos": 910, "end_pos": 910, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088836", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A910", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1295077978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295077978" }, { "id": "rs1295077978", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1295077978#frequency_tab" }, { "id": "rs1295077978", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295077978" }, { "id": "rs1295077978", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1295077978" } ], "glycoeffect": [], "start_pos": 910, "end_pos": 910, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088835", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A910", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1340682553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1340682553" }, { "id": "rs1340682553", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1340682553" } ], "glycoeffect": [], "start_pos": 911, "end_pos": 911, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088833", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E911", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs374779610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374779610" }, { "id": "rs374779610", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374779610" }, { "id": "rs374779610", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374779610#frequency_tab" }, { "id": "rs374779610", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374779610" }, { "id": "rs374779610", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374779610" } ], "glycoeffect": [], "start_pos": 912, "end_pos": 912, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088829", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R912", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs778471629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778471629" }, { "id": "rs778471629", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778471629" }, { "id": "rs778471629", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778471629#frequency_tab" }, { "id": "rs778471629", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778471629" } ], "glycoeffect": [], "start_pos": 912, "end_pos": 912, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088830", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R912", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs942438835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs942438835" }, { "id": "rs942438835", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs942438835" }, { "id": "rs942438835", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs942438835#frequency_tab" }, { "id": "rs942438835", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs942438835" } ], "glycoeffect": [], "start_pos": 913, "end_pos": 913, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088826", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0", "site_lbl": "G913", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754349454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754349454" }, { "id": "rs754349454", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754349454" }, { "id": "rs754349454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754349454" } ], "glycoeffect": [], "start_pos": 913, "end_pos": 913, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088827", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G913", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750782563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750782563" }, { "id": "rs750782563", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750782563" }, { "id": "rs750782563", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750782563#frequency_tab" }, { "id": "rs750782563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750782563" } ], "glycoeffect": [], "start_pos": 914, "end_pos": 914, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088823", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R914", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750782563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750782563" }, { "id": "rs750782563", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750782563" }, { "id": "rs750782563", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750782563#frequency_tab" }, { "id": "rs750782563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750782563" } ], "glycoeffect": [], "start_pos": 914, "end_pos": 914, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088823", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R914", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542966732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542966732" }, { "id": "rs542966732", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542966732" }, { "id": "rs542966732", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542966732" }, { "id": "rs542966732", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542966732#frequency_tab" }, { "id": "rs542966732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542966732" }, { "id": "rs542966732", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542966732" } ], "glycoeffect": [], "start_pos": 914, "end_pos": 914, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088824", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R914", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 915, "end_pos": 915, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088820", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A915", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs762094479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762094479" }, { "id": "rs762094479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762094479" }, { "id": "rs762094479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762094479" } ], "glycoeffect": [], "start_pos": 915, "end_pos": 915, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088820", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A915", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767675773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767675773" }, { "id": "rs767675773", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767675773" }, { "id": "rs767675773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767675773" } ], "glycoeffect": [], "start_pos": 915, "end_pos": 915, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088821", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A915", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127272436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127272436" }, { "id": "rs2127272436", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127272436" } ], "glycoeffect": [], "start_pos": 916, "end_pos": 916, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088817", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V916", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs751671466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751671466" }, { "id": "rs751671466", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751671466" }, { "id": "rs751671466", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751671466" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 918, "end_pos": 918, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088811", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y918", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779937516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779937516" }, { "id": "rs1779937516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779937516#frequency_tab" }, { "id": "rs1779937516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779937516" } ], "glycoeffect": [], "start_pos": 919, "end_pos": 919, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088808", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P919", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779937516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779937516" }, { "id": "rs1779937516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779937516#frequency_tab" }, { "id": "rs1779937516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779937516" } ], "glycoeffect": [], "start_pos": 919, "end_pos": 919, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088808", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P919", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1187010031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187010031" }, { "id": "rs1187010031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187010031" } ], "glycoeffect": [], "start_pos": 919, "end_pos": 919, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088809", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P919", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764272386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764272386" }, { "id": "rs764272386", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764272386" }, { "id": "rs764272386", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764272386#frequency_tab" }, { "id": "rs764272386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764272386" } ], "glycoeffect": [], "start_pos": 920, "end_pos": 920, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088805", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A920", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs776729068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776729068" }, { "id": "rs776729068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776729068" }, { "id": "rs776729068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776729068" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 921, "end_pos": 921, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088802", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S921", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1272278307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272278307" }, { "id": "rs1272278307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1272278307" }, { "id": "rs1272278307", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1272278307" } ], "glycoeffect": [], "start_pos": 924, "end_pos": 924, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32088794", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A924", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2483718490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483718490" } ], "glycoeffect": [], "start_pos": 925, "end_pos": 925, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088790", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N925", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1356696581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356696581" }, { "id": "rs1356696581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356696581" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 926, "end_pos": 926, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088788", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T926", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483718451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483718451" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 926, "end_pos": 926, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088787", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T926", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1356696581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356696581" }, { "id": "rs1356696581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356696581" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 926, "end_pos": 926, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088788", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T926", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1264482047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264482047" }, { "id": "rs1264482047", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264482047" } ], "glycoeffect": [], "start_pos": 927, "end_pos": 927, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088785", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G927", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756778483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756778483" }, { "id": "rs756778483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756778483" }, { "id": "rs756778483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756778483#frequency_tab" }, { "id": "rs756778483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756778483" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 928, "end_pos": 928, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086115", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S928", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 928, "end_pos": 928, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086116", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S928", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs756778483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756778483" }, { "id": "rs756778483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756778483" }, { "id": "rs756778483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756778483#frequency_tab" }, { "id": "rs756778483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756778483" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 928, "end_pos": 928, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086115", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S928", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ] }, { "evidence": [ { "id": "rs1451747427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1451747427" }, { "id": "rs1451747427", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1451747427#frequency_tab" }, { "id": "rs1451747427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1451747427" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 929, "end_pos": 929, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086113", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S929", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1779761475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779761475" }, { "id": "rs1779761475", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779761475#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 929, "end_pos": 929, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086112", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S929", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs766329025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766329025" }, { "id": "rs766329025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766329025" }, { "id": "rs766329025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766329025#frequency_tab" }, { "id": "rs766329025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766329025" } ], "glycoeffect": [], "start_pos": 92, "end_pos": 92, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097925", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E92", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779761281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779761281" }, { "id": "rs1779761281", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779761281" } ], "glycoeffect": [], "start_pos": 930, "end_pos": 930, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086109", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P930", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 930, "end_pos": 930, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086110", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P930", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2127265829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127265829" }, { "id": "rs2127265829", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127265829" } ], "glycoeffect": [], "start_pos": 931, "end_pos": 931, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086106", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L931", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1235870200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235870200" }, { "id": "rs1235870200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235870200" } ], "glycoeffect": [], "start_pos": 932, "end_pos": 932, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086103", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G932", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779761081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779761081" }, { "id": "rs1779761081", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779761081#frequency_tab" } ], "glycoeffect": [], "start_pos": 932, "end_pos": 932, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086104", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G932", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1438932436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1438932436" }, { "id": "rs1438932436", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1438932436#frequency_tab" }, { "id": "rs1438932436", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1438932436" }, { "id": "rs1438932436", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1438932436" } ], "glycoeffect": [], "start_pos": 935, "end_pos": 935, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086094", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G935", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1319043679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319043679" }, { "id": "rs1319043679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1319043679" } ], "glycoeffect": [], "start_pos": 936, "end_pos": 936, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086092", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T936", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1438804587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1438804587" }, { "id": "rs1438804587", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1438804587#frequency_tab" }, { "id": "rs1438804587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1438804587" } ], "glycoeffect": [], "start_pos": 938, "end_pos": 938, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086086", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D938", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382695788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382695788" }, { "id": "rs1382695788", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1382695788#frequency_tab" }, { "id": "rs1382695788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382695788" } ], "glycoeffect": [], "start_pos": 939, "end_pos": 939, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086083", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E939", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs539922100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539922100" }, { "id": "rs539922100", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539922100" }, { "id": "rs539922100", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs539922100#frequency_tab" }, { "id": "rs539922100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539922100" }, { "id": "rs539922100", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs539922100" } ], "glycoeffect": [], "start_pos": 93, "end_pos": 93, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097922", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P93", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs539922100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539922100" }, { "id": "rs539922100", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539922100" }, { "id": "rs539922100", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs539922100#frequency_tab" }, { "id": "rs539922100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539922100" } ], "glycoeffect": [], "start_pos": 93, "end_pos": 93, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097922", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P93", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775719377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775719377" }, { "id": "rs775719377", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775719377" }, { "id": "rs775719377", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775719377#frequency_tab" }, { "id": "rs775719377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775719377" } ], "glycoeffect": [], "start_pos": 940, "end_pos": 940, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086080", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P940", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779758021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779758021" }, { "id": "rs1779758021", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779758021" }, { "id": "rs1779758021", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779758021" } ], "glycoeffect": [], "start_pos": 940, "end_pos": 940, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086079", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P940", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs775719377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775719377" }, { "id": "rs775719377", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775719377" }, { "id": "rs775719377", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775719377#frequency_tab" }, { "id": "rs775719377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775719377" } ], "glycoeffect": [], "start_pos": 940, "end_pos": 940, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086080", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P940", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775719377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775719377" }, { "id": "rs775719377", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775719377" }, { "id": "rs775719377", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775719377#frequency_tab" }, { "id": "rs775719377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775719377" } ], "glycoeffect": [], "start_pos": 940, "end_pos": 940, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086080", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P940", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1454556739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454556739" }, { "id": "rs1454556739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454556739" } ], "glycoeffect": [], "start_pos": 941, "end_pos": 941, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086076", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P941", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs2483703032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483703032" } ], "glycoeffect": [], "start_pos": 941, "end_pos": 941, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086077", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P941", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 941, "end_pos": 941, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086077", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P941", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 942, "end_pos": 942, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086073", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P942", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1394178144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394178144" }, { "id": "rs1394178144", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394178144" }, { "id": "rs1394178144", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1394178144" } ], "glycoeffect": [], "start_pos": 942, "end_pos": 942, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086074", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P942", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 944, "end_pos": 944, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086067", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G944", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs745922428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745922428" }, { "id": "rs745922428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745922428" }, { "id": "rs745922428", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745922428#frequency_tab" }, { "id": "rs745922428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745922428" } ], "glycoeffect": [], "start_pos": 945, "end_pos": 945, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086064", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P945", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745922428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745922428" }, { "id": "rs745922428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745922428" }, { "id": "rs745922428", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745922428#frequency_tab" }, { "id": "rs745922428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745922428" } ], "glycoeffect": [], "start_pos": 945, "end_pos": 945, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086064", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P945", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483702893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483702893" } ], "glycoeffect": [], "start_pos": 947, "end_pos": 947, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086059", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T947", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483702841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483702841" } ], "glycoeffect": [], "start_pos": 948, "end_pos": 948, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086056", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T948", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1035693703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1035693703" }, { "id": "rs1035693703", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1035693703" } ], "glycoeffect": [], "start_pos": 94, "end_pos": 94, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097918", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P94", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs767342071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767342071" }, { "id": "rs767342071", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767342071" }, { "id": "rs767342071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767342071" }, { "id": "rs767342071", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767342071" } ], "glycoeffect": [], "start_pos": 94, "end_pos": 94, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097919", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P94", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1367586597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1367586597" }, { "id": "rs1367586597", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1367586597" } ], "glycoeffect": [], "start_pos": 950, "end_pos": 950, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086049", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G950", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232435034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232435034" }, { "id": "rs1232435034", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232435034" } ], "glycoeffect": [], "start_pos": 950, "end_pos": 950, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086050", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G950", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs560124416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560124416" }, { "id": "rs560124416", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560124416" }, { "id": "rs560124416", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560124416" }, { "id": "rs560124416", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs560124416#frequency_tab" }, { "id": "rs560124416", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs560124416" }, { "id": "rs560124416", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560124416" } ], "glycoeffect": [], "start_pos": 951, "end_pos": 951, "sequence_org": "A", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086046", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A951", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779753771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779753771" }, { "id": "rs1779753771", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779753771#frequency_tab" } ], "glycoeffect": [], "start_pos": 951, "end_pos": 951, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086047", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A951", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs560124416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560124416" }, { "id": "rs560124416", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560124416" }, { "id": "rs560124416", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560124416" }, { "id": "rs560124416", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs560124416#frequency_tab" }, { "id": "rs560124416", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs560124416" } ], "glycoeffect": [], "start_pos": 951, "end_pos": 951, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086046", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A951", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 952, "end_pos": 952, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086044", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q952", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1324697653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324697653" }, { "id": "rs1324697653", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324697653" } ], "glycoeffect": [], "start_pos": 952, "end_pos": 952, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086044", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q952", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582451793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582451793" }, { "id": "rs1582451793", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582451793" } ], "glycoeffect": [], "start_pos": 952, "end_pos": 952, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086043", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q952", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779752732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779752732" }, { "id": "rs1779752732", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779752732" } ], "glycoeffect": [], "start_pos": 953, "end_pos": 953, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086041", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A953", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs969571718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs969571718" }, { "id": "rs969571718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs969571718#frequency_tab" }, { "id": "rs969571718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs969571718" } ], "glycoeffect": [], "start_pos": 954, "end_pos": 954, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086038", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P954", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766081541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766081541" }, { "id": "rs766081541", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766081541" }, { "id": "rs766081541", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766081541#frequency_tab" }, { "id": "rs766081541", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766081541" } ], "glycoeffect": [], "start_pos": 954, "end_pos": 954, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086037", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P954", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs969571718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs969571718" }, { "id": "rs969571718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs969571718#frequency_tab" }, { "id": "rs969571718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs969571718" } ], "glycoeffect": [], "start_pos": 954, "end_pos": 954, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086038", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P954", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1171496996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171496996" }, { "id": "rs1171496996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1171496996#frequency_tab" }, { "id": "rs1171496996", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171496996" }, { "id": "rs1171496996", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1171496996" } ], "glycoeffect": [], "start_pos": 955, "end_pos": 955, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086035", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L955", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs918086173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918086173" }, { "id": "rs918086173", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs918086173" } ], "glycoeffect": [], "start_pos": 957, "end_pos": 957, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086029", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q957", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779751111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779751111" }, { "id": "rs1779751111", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779751111" } ], "glycoeffect": [], "start_pos": 958, "end_pos": 958, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086026", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q958", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 958, "end_pos": 958, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086026", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q958", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs749923458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749923458" }, { "id": "rs749923458", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749923458" }, { "id": "rs749923458", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749923458#frequency_tab" }, { "id": "rs749923458", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749923458" } ], "glycoeffect": [], "start_pos": 959, "end_pos": 959, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086023", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R959", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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", "germline" ] }, { "evidence": [ { "id": "rs749923458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749923458" }, { "id": "rs749923458", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749923458" }, { "id": "rs749923458", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749923458#frequency_tab" }, { "id": "rs749923458", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749923458" } ], "glycoeffect": [], "start_pos": 959, "end_pos": 959, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086023", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R959", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs768206893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768206893" }, { "id": "rs768206893", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768206893" }, { "id": "rs768206893", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768206893#frequency_tab" }, { "id": "rs768206893", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768206893" }, { "id": "rs768206893", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768206893" } ], "glycoeffect": [], "start_pos": 959, "end_pos": 959, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086022", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R959", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 95, "end_pos": 95, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32044648", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V95", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1238664158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238664158" }, { "id": "rs1238664158", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238664158" }, { "id": "rs1238664158", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1238664158" } ], "glycoeffect": [], "start_pos": 960, "end_pos": 960, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086019", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P960", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs551174904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551174904" }, { "id": "rs551174904", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs551174904" }, { "id": "rs551174904", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551174904" }, { "id": "rs551174904", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs551174904#frequency_tab" }, { "id": "rs551174904", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs551174904" } ], "glycoeffect": [], "start_pos": 961, "end_pos": 961, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086016", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "Q961", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs551174904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551174904" }, { "id": "rs551174904", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs551174904" }, { "id": "rs551174904", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551174904" }, { "id": "rs551174904", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs551174904#frequency_tab" }, { "id": "rs551174904", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs551174904" } ], "glycoeffect": [], "start_pos": 961, "end_pos": 961, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086016", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "Q961", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 962, "end_pos": 962, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086014", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E962", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 962, "end_pos": 962, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32086014", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E962", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1457020557", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457020557" }, { "id": "rs1457020557", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457020557#frequency_tab" }, { "id": "rs1457020557", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457020557" } ], "glycoeffect": [], "start_pos": 964, "end_pos": 964, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086007", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G964", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779749628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779749628" }, { "id": "rs1779749628", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779749628" } ], "glycoeffect": [], "start_pos": 965, "end_pos": 965, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086005", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E965", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 967, "end_pos": 967, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085997", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R967", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs533102292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533102292" }, { "id": "rs533102292", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs533102292" } ], "glycoeffect": [], "start_pos": 968, "end_pos": 968, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085995", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V968", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 969, "end_pos": 969, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085992", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L969", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 96, "end_pos": 96, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097913", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L96", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1780503217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780503217" }, { "id": "rs1780503217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780503217#frequency_tab" } ], "glycoeffect": [], "start_pos": 96, "end_pos": 96, "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097912", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L96", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1780503217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780503217" }, { "id": "rs1780503217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780503217#frequency_tab" } ], "glycoeffect": [], "start_pos": 96, "end_pos": 96, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097912", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L96", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582451559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582451559" }, { "id": "rs1582451559", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582451559" } ], "glycoeffect": [], "start_pos": 970, "end_pos": 970, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085990", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G970", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1179358044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179358044" }, { "id": "rs1179358044", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1179358044#frequency_tab" }, { "id": "rs1179358044", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179358044" } ], "glycoeffect": [], "start_pos": 971, "end_pos": 971, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085986", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R971", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483702114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483702114" } ], "glycoeffect": [], "start_pos": 972, "end_pos": 972, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085983", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D972", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 973, "end_pos": 973, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085979", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E973", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs775619941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775619941" }, { "id": "rs775619941", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775619941" }, { "id": "rs775619941", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775619941#frequency_tab" }, { "id": "rs775619941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775619941" } ], "glycoeffect": [], "start_pos": 973, "end_pos": 973, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085981", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E973", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775619941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775619941" }, { "id": "rs775619941", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775619941" }, { "id": "rs775619941", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775619941#frequency_tab" }, { "id": "rs775619941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775619941" } ], "glycoeffect": [], "start_pos": 973, "end_pos": 973, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085981", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E973", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1368989194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368989194" }, { "id": "rs1368989194", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368989194#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 974, "end_pos": 974, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085977", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T974", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1368989194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368989194" }, { "id": "rs1368989194", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368989194#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 974, "end_pos": 974, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085977", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T974", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746011565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746011565" }, { "id": "rs746011565", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746011565" }, { "id": "rs746011565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746011565" } ], "glycoeffect": [], "start_pos": 975, "end_pos": 975, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085975", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G975", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs776675309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776675309" }, { "id": "rs776675309", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776675309" }, { "id": "rs776675309", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776675309#frequency_tab" }, { "id": "rs776675309", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776675309" }, { "id": "rs776675309", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs776675309" } ], "glycoeffect": [], "start_pos": 976, "end_pos": 976, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085972", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R976", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs200771983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200771983" }, { "id": "rs200771983", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200771983" }, { "id": "rs200771983", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200771983" }, { "id": "rs200771983", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200771983#frequency_tab" }, { "id": "rs200771983", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200771983" } ], "glycoeffect": [], "start_pos": 976, "end_pos": 976, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085971", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R976", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200771983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200771983" }, { "id": "rs200771983", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200771983" }, { "id": "rs200771983", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200771983" }, { "id": "rs200771983", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200771983#frequency_tab" }, { "id": "rs200771983", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200771983" } ], "glycoeffect": [], "start_pos": 976, "end_pos": 976, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085971", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R976", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748038106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748038106" }, { "id": "rs748038106", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748038106" }, { "id": "rs748038106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748038106" } ], "glycoeffect": [], "start_pos": 977, "end_pos": 977, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085969", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L977", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483701960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483701960" } ], "glycoeffect": [], "start_pos": 977, "end_pos": 977, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085970", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L977", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377379714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377379714" }, { "id": "rs377379714", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377379714" }, { "id": "rs377379714", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377379714#frequency_tab" }, { "id": "rs377379714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377379714" } ], "glycoeffect": [], "start_pos": 978, "end_pos": 978, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085966", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R978", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377379714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377379714" }, { "id": "rs377379714", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377379714" }, { "id": "rs377379714", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377379714#frequency_tab" }, { "id": "rs377379714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377379714" } ], "glycoeffect": [], "start_pos": 978, "end_pos": 978, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085966", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R978", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754751090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754751090" }, { "id": "rs754751090", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754751090" }, { "id": "rs754751090", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754751090#frequency_tab" }, { "id": "rs754751090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754751090" } ], "glycoeffect": [], "start_pos": 978, "end_pos": 978, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085965", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R978", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 978, "end_pos": 978, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085965", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R978", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1024919515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1024919515" }, { "id": "rs1024919515", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1024919515#frequency_tab" }, { "id": "rs1024919515", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1024919515" } ], "glycoeffect": [], "start_pos": 97, "end_pos": 97, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097910", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A97", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376816337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376816337" }, { "id": "rs376816337", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376816337" }, { "id": "rs376816337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376816337" } ], "glycoeffect": [], "start_pos": 97, "end_pos": 97, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097909", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A97", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483701824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483701824" } ], "glycoeffect": [], "start_pos": 981, "end_pos": 981, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085955", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W981", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779744817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779744817" }, { "id": "rs1779744817", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779744817" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 982, "end_pos": 982, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085954", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T982", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199569974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199569974" }, { "id": "rs199569974", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199569974" }, { "id": "rs199569974", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199569974" }, { "id": "rs199569974", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199569974#frequency_tab" }, { "id": "rs199569974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199569974" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 982, "end_pos": 982, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085953", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "T982", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199569974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199569974" }, { "id": "rs199569974", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199569974" }, { "id": "rs199569974", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199569974" }, { "id": "rs199569974", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199569974#frequency_tab" }, { "id": "rs199569974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199569974" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 982, "end_pos": 982, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085953", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "T982", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs138850364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138850364" }, { "id": "rs138850364", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138850364" }, { "id": "rs138850364", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138850364" }, { "id": "rs138850364", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138850364#frequency_tab" }, { "id": "rs138850364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138850364" }, { "id": "rs138850364", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138850364" } ], "glycoeffect": [], "start_pos": 983, "end_pos": 983, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085951", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A983", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs138850364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138850364" }, { "id": "rs138850364", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138850364" }, { "id": "rs138850364", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138850364" }, { "id": "rs138850364", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138850364#frequency_tab" }, { "id": "rs138850364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138850364" } ], "glycoeffect": [], "start_pos": 983, "end_pos": 983, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085951", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A983", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 985, "end_pos": 985, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085945", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P985", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1779743862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779743862" }, { "id": "rs1779743862", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779743862#frequency_tab" } ], "glycoeffect": [], "start_pos": 985, "end_pos": 985, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085945", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P985", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779743423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779743423" }, { "id": "rs1779743423", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779743423#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 987, "end_pos": 987, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085938", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T987", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs896439232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs896439232" }, { "id": "rs896439232", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs896439232#frequency_tab" }, { "id": "rs896439232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs896439232" } ], "glycoeffect": [], "start_pos": 989, "end_pos": 989, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085933", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A989", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779742950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779742950" }, { "id": "rs1779742950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779742950#frequency_tab" }, { "id": "rs1779742950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779742950" } ], "glycoeffect": [], "start_pos": 989, "end_pos": 989, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085932", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A989", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1376714004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376714004" }, { "id": "rs1376714004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1376714004" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 98, "end_pos": 98, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097906", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S98", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1562879498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562879498" }, { "id": "rs1562879498", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562879498" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 98, "end_pos": 98, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097907", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S98", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127265234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127265234" }, { "id": "rs2127265234", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127265234" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 990, "end_pos": 990, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085930", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y990", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 991, "end_pos": 991, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085927", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F991", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2127265224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127265224" }, { "id": "rs2127265224", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127265224" } ], "glycoeffect": [], "start_pos": 992, "end_pos": 992, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085924", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q992", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs183834630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs183834630" }, { "id": "rs183834630", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs183834630" }, { "id": "rs183834630", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs183834630" }, { "id": "rs183834630", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs183834630#frequency_tab" } ], "glycoeffect": [], "start_pos": 992, "end_pos": 992, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085922", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "Q992", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483701538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483701538" } ], "glycoeffect": [], "start_pos": 993, "end_pos": 993, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085920", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L993", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372167278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372167278" }, { "id": "rs372167278", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372167278" }, { "id": "rs372167278", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372167278#frequency_tab" }, { "id": "rs372167278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372167278" } ], "glycoeffect": [], "start_pos": 994, "end_pos": 994, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085917", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R994", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372167278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372167278" }, { "id": "rs372167278", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372167278" }, { "id": "rs372167278", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372167278#frequency_tab" }, { "id": "rs372167278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372167278" } ], "glycoeffect": [], "start_pos": 994, "end_pos": 994, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085917", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R994", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1233769879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233769879" }, { "id": "rs1233769879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233769879" } ], "glycoeffect": [], "start_pos": 995, "end_pos": 995, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085915", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M995", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1233769879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233769879" }, { "id": "rs1233769879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233769879" } ], "glycoeffect": [], "start_pos": 995, "end_pos": 995, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085915", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M995", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775825339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775825339" }, { "id": "rs775825339", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775825339" }, { "id": "rs775825339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775825339#frequency_tab" }, { "id": "rs775825339", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775825339" } ], "glycoeffect": [], "start_pos": 996, "end_pos": 996, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085912", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R996", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs765497989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765497989" }, { "id": "rs765497989", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765497989" }, { "id": "rs765497989", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765497989#frequency_tab" }, { "id": "rs765497989", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765497989" }, { "id": "rs765497989", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765497989" } ], "glycoeffect": [], "start_pos": 996, "end_pos": 996, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085911", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R996", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs775825339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775825339" }, { "id": "rs775825339", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775825339" }, { "id": "rs775825339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775825339#frequency_tab" }, { "id": "rs775825339", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775825339" }, { "id": "rs775825339", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775825339" } ], "glycoeffect": [], "start_pos": 996, "end_pos": 996, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085912", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R996", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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": "rs759766495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759766495" }, { "id": "rs759766495", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759766495" }, { "id": "rs759766495", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759766495" } ], "glycoeffect": [], "start_pos": 997, "end_pos": 997, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085908", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V997", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs1779740825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779740825" }, { "id": "rs1779740825", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779740825#frequency_tab" } ], "glycoeffect": [], "start_pos": 997, "end_pos": 997, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085909", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V997", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779740378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779740378" }, { "id": "rs1779740378", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779740378" } ], "glycoeffect": [], "start_pos": 998, "end_pos": 998, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085905", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P998", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1291370559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291370559" }, { "id": "rs1291370559", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1291370559#frequency_tab" }, { "id": "rs1291370559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1291370559" } ], "glycoeffect": [], "start_pos": 999, "end_pos": 999, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32085902", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E999", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs373054105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373054105" }, { "id": "rs373054105", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373054105" }, { "id": "rs373054105", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373054105" }, { "id": "rs373054105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373054105#frequency_tab" }, { "id": "rs373054105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373054105" }, { "id": "rs373054105", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373054105" } ], "glycoeffect": [], "start_pos": 999, "end_pos": 999, "subjects_tested": "1906", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32085903", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E999", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 99, "end_pos": 99, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32097904", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E99", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs757855203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757855203" }, { "id": "rs757855203", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757855203" }, { "id": "rs757855203", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757855203" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 9, "end_pos": 9, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098173", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T9", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "66.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "77.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P22105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P22105" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "gene": [ { "name": "TNXB", "url": "https://www.uniprot.org/uniprotkb/P22105", "locus": { "chromosome": "6", "start_pos": 32041153, "end_pos": 32115334, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000168477", "url": "https://www.ensembl.org/id/ENSG00000168477" } ] } } ], "crossref": [ { "id": "HGNC:11976", "url": "https://alliancegenome.org/gene/HGNC:11976", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "P22105", "url": "https://alphafold.ebi.ac.uk/entry/P22105", "database": "AlphaFoldDB", "categories": [] }, { "id": "ENSG00000168477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168477", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P22105", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00087", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00087", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "TNXB", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNXB", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "7148", "url": "https://www.ncbi.nlm.nih.gov/gene/7148", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1794", "url": "https://glyconnect.expasy.org/browser/proteins/1794", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycomics" ] }, { "id": "11976", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11976", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "7148", "url": "https://hpo.jax.org/browse/gene/NCBIGene:7148", "database": "HPO", "categories": [ "Other" ] }, { "id": "2CUH", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=2CUH&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "2CUI", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=2CUI&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "2CUM", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=2CUM&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "1037145", "url": "https://www.iedb.org/epitope/1037145", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1088278", "url": "https://www.iedb.org/epitope/1088278", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1091878", "url": "https://www.iedb.org/epitope/1091878", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1112647", "url": "https://www.iedb.org/epitope/1112647", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1113788", "url": "https://www.iedb.org/epitope/1113788", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1118197", "url": "https://www.iedb.org/epitope/1118197", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1118516", "url": "https://www.iedb.org/epitope/1118516", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1181438", "url": "https://www.iedb.org/epitope/1181438", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1182845", "url": "https://www.iedb.org/epitope/1182845", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1202210", "url": "https://www.iedb.org/epitope/1202210", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1202211", "url": "https://www.iedb.org/epitope/1202211", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1224108", "url": "https://www.iedb.org/epitope/1224108", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1333975", "url": "https://www.iedb.org/epitope/1333975", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1361834", "url": "https://www.iedb.org/epitope/1361834", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1554592", "url": "https://www.iedb.org/epitope/1554592", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1603140", "url": "https://www.iedb.org/epitope/1603140", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1627367", "url": "https://www.iedb.org/epitope/1627367", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1852594", "url": "https://www.iedb.org/epitope/1852594", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1857255", "url": "https://www.iedb.org/epitope/1857255", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1891634", "url": "https://www.iedb.org/epitope/1891634", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1909660", "url": "https://www.iedb.org/epitope/1909660", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1919717", "url": "https://www.iedb.org/epitope/1919717", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1973119", "url": "https://www.iedb.org/epitope/1973119", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1976237", "url": "https://www.iedb.org/epitope/1976237", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1991172", "url": "https://www.iedb.org/epitope/1991172", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2005074", "url": "https://www.iedb.org/epitope/2005074", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2007004", "url": "https://www.iedb.org/epitope/2007004", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2009071", "url": "https://www.iedb.org/epitope/2009071", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2009072", "url": "https://www.iedb.org/epitope/2009072", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2010074", "url": "https://www.iedb.org/epitope/2010074", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2011224", "url": "https://www.iedb.org/epitope/2011224", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2011248", "url": "https://www.iedb.org/epitope/2011248", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2013272", "url": "https://www.iedb.org/epitope/2013272", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2013456", "url": "https://www.iedb.org/epitope/2013456", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2013872", "url": "https://www.iedb.org/epitope/2013872", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2015707", "url": "https://www.iedb.org/epitope/2015707", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2015840", "url": "https://www.iedb.org/epitope/2015840", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2016652", "url": "https://www.iedb.org/epitope/2016652", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2017649", "url": "https://www.iedb.org/epitope/2017649", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2018005", "url": "https://www.iedb.org/epitope/2018005", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2018281", "url": "https://www.iedb.org/epitope/2018281", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2018282", "url": "https://www.iedb.org/epitope/2018282", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2021714", "url": "https://www.iedb.org/epitope/2021714", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2027218", "url": "https://www.iedb.org/epitope/2027218", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2030813", "url": "https://www.iedb.org/epitope/2030813", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2032585", "url": "https://www.iedb.org/epitope/2032585", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2032969", "url": "https://www.iedb.org/epitope/2032969", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2034846", "url": "https://www.iedb.org/epitope/2034846", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2036492", "url": "https://www.iedb.org/epitope/2036492", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2037710", "url": "https://www.iedb.org/epitope/2037710", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2039819", "url": "https://www.iedb.org/epitope/2039819", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2041435", "url": "https://www.iedb.org/epitope/2041435", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2042213", "url": "https://www.iedb.org/epitope/2042213", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2042744", "url": "https://www.iedb.org/epitope/2042744", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2042846", "url": "https://www.iedb.org/epitope/2042846", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2042902", "url": "https://www.iedb.org/epitope/2042902", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2044214", "url": "https://www.iedb.org/epitope/2044214", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2045034", "url": "https://www.iedb.org/epitope/2045034", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2045110", "url": "https://www.iedb.org/epitope/2045110", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2045177", "url": "https://www.iedb.org/epitope/2045177", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2045929", "url": "https://www.iedb.org/epitope/2045929", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2046572", "url": "https://www.iedb.org/epitope/2046572", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2047176", "url": "https://www.iedb.org/epitope/2047176", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2049332", "url": "https://www.iedb.org/epitope/2049332", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2050194", "url": "https://www.iedb.org/epitope/2050194", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2050482", "url": "https://www.iedb.org/epitope/2050482", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2051745", "url": "https://www.iedb.org/epitope/2051745", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2051809", "url": "https://www.iedb.org/epitope/2051809", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2052352", "url": "https://www.iedb.org/epitope/2052352", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2056408", "url": "https://www.iedb.org/epitope/2056408", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2058169", "url": "https://www.iedb.org/epitope/2058169", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2058437", "url": "https://www.iedb.org/epitope/2058437", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2264043", "url": "https://www.iedb.org/epitope/2264043", "database": "IEDB", "categories": [ "Other" ] }, { "id": "549710", "url": "https://www.iedb.org/epitope/549710", "database": "IEDB", "categories": [ "Other" ] }, { "id": "592315", "url": "https://www.iedb.org/epitope/592315", "database": "IEDB", "categories": [ "Other" ] }, { "id": "592355", "url": "https://www.iedb.org/epitope/592355", "database": "IEDB", "categories": [ "Other" ] }, { "id": "702359", "url": "https://www.iedb.org/epitope/702359", "database": "IEDB", "categories": [ "Other" ] }, { "id": "720723", "url": "https://www.iedb.org/epitope/720723", "database": "IEDB", "categories": [ "Other" ] }, { "id": "869289", "url": "https://www.iedb.org/epitope/869289", "database": "IEDB", "categories": [ "Other" ] }, { "id": "877836", "url": "https://www.iedb.org/epitope/877836", "database": "IEDB", "categories": [ "Other" ] }, { "id": "878677", "url": "https://www.iedb.org/epitope/878677", "database": "IEDB", "categories": [ "Other" ] }, { "id": "941044", "url": "https://www.iedb.org/epitope/941044", "database": "IEDB", "categories": [ "Other" ] }, { "id": "987384", "url": "https://www.iedb.org/epitope/987384", "database": "IEDB", "categories": [ "Other" ] }, { "id": "P22105", "url": "https://www.ebi.ac.uk/intact/interactors/id:P22105*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002181", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002181", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014716", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014716", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020837", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020837", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036056", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036056", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036116", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036116", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041161", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041161", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR050991", "url": "https://www.ebi.ac.uk/interpro/entry/IPR050991", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7148", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:7148", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "600985", "url": "http://www.omim.org/entry/600985", "database": "MIM", "categories": [ "Other" ] }, { "id": "606408", "url": "http://www.omim.org/entry/606408", "database": "MIM", "categories": [ "Other" ] }, { "id": "615963", "url": "http://www.omim.org/entry/615963", "database": "MIM", "categories": [ "Other" ] }, { "id": "P22105", "url": "https://oglcnac.org/atlas/detail/P22105", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P22105", "url": "https://www.orthodb.org/?gene=P22105", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46708", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46708", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46708:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46708:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "pdb_00002cuh", "url": "https://www.rcsb.org/structure/pdb_00002cuh", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00002cui", "url": "https://www.rcsb.org/structure/pdb_00002cui", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "pdb_00002cum", "url": "https://www.rcsb.org/structure/pdb_00002cum", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2CUH", "url": "https://www.rcsb.org/structure/2CUH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2CUI", "url": "https://www.rcsb.org/structure/2CUI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2CUM", "url": "https://www.rcsb.org/structure/2CUM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00041", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00041", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "PF00147", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00147", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "PF18720", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF18720", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "PF23106", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF23106", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "PF25024", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF25024", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "P22105", "url": "https://pharos.nih.gov/targets/P22105", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000056146", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056146", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056147", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056147", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056148", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056148", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056149", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056149", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056150", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056150", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056151", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056151", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056152", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056152", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056153", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056153", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056154", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056154", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056155", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056155", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056156", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056156", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056157", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056157", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056158", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056158", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056159", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056159", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056160", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056160", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056161", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056161", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056162", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056162", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056163", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056163", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056164", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056164", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056165", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056165", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056166", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056166", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056167", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056167", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056168", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056168", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056169", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056169", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056170", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056170", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056171", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056171", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056172", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056172", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056173", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056173", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056174", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056174", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056175", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056175", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056176", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056176", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056177", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056177", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056178", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056178", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056179", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056179", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056180", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056180", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056181", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056181", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056182", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056182", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056183", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056183", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056184", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056184", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056185", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056185", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056186", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056186", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056187", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056187", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056188", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056188", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056189", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056189", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056190", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056190", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056191", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056191", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056192", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056192", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056193", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056193", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056194", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056194", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000056195", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056195", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:P22105", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:P22105", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_061978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P22105-1", "url": "https://www.uniprot.org/uniprotkb/P22105-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P22105-2", "url": "https://www.uniprot.org/uniprotkb/P22105-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P22105-3", "url": "https://www.uniprot.org/uniprotkb/P22105-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P22105-4", "url": "https://www.uniprot.org/uniprotkb/P22105-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMPAQYALTSSLVLLVLLSTARAGPFSSRSNVTLPAPRPPPQPGGHTVGAGVGSPSSQLYEHTVEGGEKQVVFTHRINLPPSTGCGCPPGTEPPVLASEVQALRVRLEILEELVKGLKEQCTGGCCPASAQAGTGQTDVRTLCSLHGVFDLSRCTCSCEPGWGGPTCSDPTDAEIPPSSPPSASGSCPDDCNDQGRCVRGRCVCFPGYTGPSCGWPSCPGDCQGRGRCVQGVCVCRAGFSGPDCSQRSCPRGCSQRGRCEGGRCVCDPGYTGDDCGMRSCPRGCSQRGRCENGRCVCNPGYTGEDCGVRSCPRGCSQRGRCKDGRCVCDPGYTGEDCGTRSCPWDCGEGGRCVDGRCVCWPGYTGEDCSTRTCPRDCRGRGRCEDGECICDTGYSGDDCGVRSCPGDCNQRGRCEDGRCVCWPGYTGTDCGSRACPRDCRGRGRCENGVCVCNAGYSGEDCGVRSCPGDCRGRGRCESGRCMCWPGYTGRDCGTRACPGDCRGRGRCVDGRCVCNPGFTGEDCGSRRCPGDCRGHGLCEDGVCVCDAGYSGEDCSTRSCPGGCRGRGQCLDGRCVCEDGYSGEDCGVRQCPNDCSQHGVCQDGVCICWEGYVSEDCSIRTCPSNCHGRGRCEEGRCLCDPGYTGPTCATRMCPADCRGRGRCVQGVCLCHVGYGGEDCGQEEPPASACPGGCGPRELCRAGQCVCVEGFRGPDCAIQTCPGDCRGRGECHDGSCVCKDGYAGEDCGEEVPTIEGMRMHLLEETTVRTEWTPAPGPVDAYEIQFIPTTEGASPPFTARVPSSASAYDQRGLAPGQEYQVTVRALRGTSWGLPASKTITTMIDGPQDLRVVAVTPTTLELGWLRPQAEVDRFVVSYVSAGNQRVRLEVPPEADGTLLTDLMPGVEYVVTVTAERGRAVSYPASVRANTGSSPLGLLGTTDEPPPSGPSTTQGAQAPLLQQRPQELGELRVLGRDETGRLRVVWTAQPDTFAYFQLRMRVPEGPGAHEEVLPGDVRQALVPPPPPGTPYELSLHGVPPGGKPSDPIIYQGIMDKDEEKPGKSSGPPRLGELTVTDRTSDSLLLRWTVPEGEFDSFVIQYKDRDGQPQVVPVEGPQRSAVITSLDPGRKYKFVLYGFVGKKRHGPLVAEAKILPQSDPSPGTPPHLGNLWVTDPTPDSLHLSWTVPEGQFDTFMVQYRDRDGRPQVVPVEGPERSFVVSSLDPDHKYRFTLFGIANKKRYGPLTADGTTAPERKEEPPRPEFLEQPLLGELTVTGVTPDSLRLSWTVAQGPFDSFMVQYKDAQGQPQAVPVAGDENEVTVPGLDPDRKYKMNLYGLRGRQRVGPESVVAKTAPQEDVDETPSPTELGTEAPESPEEPLLGELTVTGSSPDSLSLFWTVPQGSFDSFTVQYKDRDGRPRAVRVGGKESEVTVGGLEPGHKYKMHLYGLHEGQRVGPVSAVGVTAPQQEETPPATESPLEPRLGELTVTDVTPNSVGLSWTVPEGQFDSFIVQYKDKDGQPQVVPVAADQREVTVYNLEPERKYKMNMYGLHDGQRMGPLSVVIVTAPLPPAPATEASKPPLEPRLGELTVTDITPDSVGLSWTVPEGEFDSFVVQYKDRDGQPQVVPVAADQREVTIPDLEPSRKYKFLLFGIQDGKRRSPVSVEAKTVARGDASPGAPPRLGELWVTDPTPDSLRLSWTVPEGQFDSFVVQFKDKDGPQVVPVEGHERSVTVTPLDAGRKYRFLLYGLLGKKRHGPLTADGTTEARSAMDDTGTKRPPKPRLGEELQVTTVTQNSVGLSWTVPEGQFDSFVVQYKDRDGQPQVVPVEGSLREVSVPGLDPAHRYKLLLYGLHHGKRVGPISAVAITAGREETETETTAPTPPAPEPHLGELTVEEATSHTLHLSWMVTEGEFDSFEIQYTDRDGQLQMVRIGGDRNDITLSGLESDHRYLVTLYGFSDGKHVGPVHVEALTVPEEEKPSEPPTATPEPPIKPRLGELTVTDATPDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEEGVTISGLEPDHKYKMNLYGFHGGQRMGPVSVVGVTAAEEETPSPTEPSMEAPEPAEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSAVGVTAPEEESPDAPLAKLRLGQMTVRDITSDSLSLSWTVPEGQFDHFLVQFKNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPVSAVGLTAPGKDEEMAPASTEPPTPEPPIKPRLEELTVTDATPDSLSLSWTVPEGQFDHFLVQYKNGDGQPKATRVPGHEDRVTISGLEPDNKYKMNLYGFHGGQRVGPVSAIGVTAAEEETPSPTEPSMEAPEPPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVGVTAPQEDVDETPSPTEPGTEAPGPPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQAVRVGGQESKVTVRGLEPGRKYKMHLYGLHEGRRLGPVSAVGVTEDEAETTQAVPTMTPEPPIKPRLGELTMTDATPDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPISVIGVTAAEEETPSPTELSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQGHFDSFTVQYKDRDGRPQVMRVRGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVGVTAPEDEAETTQAVPTTTPEPPNKPRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRNGDGQPKVVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPISVIGVTAAEEETPAPTEPSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQGRFDSFTVQYKDRDGRPQVVRVRGEESEVTVGGLEPGCKYKMHLYGLHEGQRVGPVSAVGVTAPKDEAETTQAVPTMTPEPPIKPRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPVSAIGVTEEETPSPTEPSTEAPEAPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGQPQVVRVRGEESEVTVGGLEPGRKYKMHLYGLHEGQRVGPVSTVGITAPLPTPLPVEPRLGELAVAAVTSDSVGLSWTVAQGPFDSFLVQYRDAQGQPQAVPVSGDLRAVAVSGLDPARKYKFLLFGLQNGKRHGPVPVEARTAPDTKPSPRLGELTVTDATPDSVGLSWTVPEGEFDSFVVQYKDKDGRLQVVPVAANQREVTVQGLEPSRKYRFLLYGLSGRKRLGPISADSTTAPLEKELPPHLGELTVAEETSSSLRLSWTVAQGPFDSFVVQYRDTDGQPRAVPVAADQRTVTVEDLEPGKKYKFLLYGLLGGKRLGPVSALGMTAPEEDTPAPELAPEAPEPPEEPRLGVLTVTDTTPDSMRLSWSVAQGPFDSFVVQYEDTNGQPQALLVDGDQSKILISGLEPSTPYRFLLYGLHEGKRLGPLSAEGTTGLAPAGQTSEESRPRLSQLSVTDVTTSSLRLNWEAPPGAFDSFLLRFGVPSPSTLEPHPRPLLQRELMVPGTRHSAVLRDLRSGTLYSLTLYGLRGPHKADSIQGTARTLSPVLESPRDLQFSEIRETSAKVNWMPPPSRADSFKVSYQLADGGEPQSVQVDGQARTQKLQGLIPGARYEVTVVSVRGFEESEPLTGFLTTVPDGPTQLRALNLTEGFAVLHWKPPQNPVDTYDVQVTAPGAPPLQAETPGSAVDYPLHDLVLHTNYTATVRGLRGPNLTSPASITFTTGLEAPRDLEAKEVTPRTALLTWTEPPVRPAGYLLSFHTPGGQNQEILLPGGITSHQLLGLFPSTSYNARLQAMWGQSLLPPVSTSFTTGGLRIPFPRDCGEEMQNGAGASRTSTIFLNGNRERPLNVFCDMETDGGGWLVFQRRMDGQTDFWRDWEDYAHGFGNISGEFWLGNEALHSLTQAGDYSMRVDLRAGDEAVFAQYDSFHVDSAAEYYRLHLEGYHGTAGDSMSYHSGSVFSARDRDPNSLLISCAVSYRGAWWYRNCHYANLNGLYGSTVDHQGVSWYHWKGFEFSVPFTEMKLRPRNFRSPAGGG", "length": 4244, "header": "sp|P22105-3|TENX_HUMAN Isoform 3 of Tenascin-X OS=Homo sapiens OX=9606 GN=TNXB PE=1 SV=5 CANONICAL=P22105-3" }, "isoforms": [ { "isoform_ac": "P22105-1", "url": "https://www.uniprot.org/uniprotkb/P22105/entry#P22105-1", "sequence": { "sequence": "MMPAQYALTSSLVLLVLLSTARAGPFSSRSNVTLPAPRPPPQPGGHTVGAGVGSPSSQLYEHTVEGGEKQVVFTHRINLPPSTGCGCPPGTEPPVLASEVQALRVRLEILEELVKGLKEQCTGGCCPASAQAGTGQTDVRTLCSLHGVFDLSRCTCSCEPGWGGPTCSDPTDAEIPPSSPPSASGSCPDDCNDQGRCVRGRCVCFPGYTGPSCGWPSCPGDCQGRGRCVQGVCVCRAGFSGPDCSQRSCPRGCSQRGRCEGGRCVCDPGYTGDDCGMRSCPRGCSQRGRCENGRCVCNPGYTGEDCGVRSCPRGCSQRGRCKDGRCVCDPGYTGEDCGTRSCPWDCGEGGRCVDGRCVCWPGYTGEDCSTRTCPRDCRGRGRCEDGECICDTGYSGDDCGVRSCPGDCNQRGRCEDGRCVCWPGYTGTDCGSRACPRDCRGRGRCENGVCVCNAGYSGEDCGVRSCPGDCRGRGRCESGRCMCWPGYTGRDCGTRACPGDCRGRGRCVDGRCVCNPGFTGEDCGSRRCPGDCRGHGLCEDGVCVCDAGYSGEDCSTRSCPGGCRGRGQCLDGRCVCEDGYSGEDCGVRQCPNDCSQHGVCQDGVCICWEGYVSEDCSIRTCPSNCHGRGRCEEGRCLCDPGYTGPTCATRMCPADCRGRGRCVQGVCLCHVGYGGEDCGQEEPPASACPGGCGPRELCRAGQCVCVEGFRGPDCAIQTCPGDCRGRGECHDGSCVCKDGYAGEDCGEEVPTIEGMRMHLLEETTVRTEWTPAPGPVDAYEIQFIPTTEGASPPFTARVPSSASAYDQRGLAPGQEYQVTVRALRGTSWGLPASKTITTMIDGPQDLRVVAVTPTTLELGWLRPQAEVDRFVVSYVSAGNQRVRLEVPPEADGTLLTDLMPGVEYVVTVTAERGRAVSYPASVRANTGSSPLGLLGTTDEPPPSGPSTTQGAQAPLLQQRPQELGELRVLGRDETGRLRVVWTAQPDTFAYFQLRMRVPEGPGAHEEVLPGDVRQALVPPPPPGTPYELSLHGVPPGGKPSDPIIYQGIMDKDEEKPGKSSGPPRLGELTVTDRTSDSLLLRWTVPEGEFDSFVIQYKDRDGQPQVVPVEGPQRSAVITSLDPGRKYKFVLYGFVGKKRHGPLVAEAKILPQSDPSPGTPPHLGNLWVTDPTPDSLHLSWTVPEGQFDTFMVQYRDRDGRPQVVPVEGPERSFVVSSLDPDHKYRFTLFGIANKKRYGPLTADGTTAPERKEEPPRPEFLEQPLLGELTVTGVTPDSLRLSWTVAQGPFDSFMVQYKDAQGQPQAVPVAGDENEVTVPGLDPDRKYKMNLYGLRGRQRVGPESVVAKTAPQEDVDETPSPTELGTEAPESPEEPLLGELTVTGSSPDSLSLFWTVPQGSFDSFTVQYKDRDGRPRAVRVGGKESEVTVGGLEPGHKYKMHLYGLHEGQRVGPVSAVGVTAPQQEETPPATESPLEPRLGELTVTDVTPNSVGLSWTVPEGQFDSFIVQYKDKDGQPQVVPVAADQREVTVYNLEPERKYKMNMYGLHDGQRMGPLSVVIVTAPLPPAPATEASKPPLEPRLGELTVTDITPDSVGLSWTVPEGEFDSFVVQYKDRDGQPQVVPVAADQREVTIPDLEPSRKYKFLLFGIQDGKRRSPVSVEAKTVARGDASPGAPPRLGELWVTDPTPDSLRLSWTVPEGQFDSFVVQFKDKDGPQVVPVEGHERSVTVTPLDAGRKYRFLLYGLLGKKRHGPLTADGTTEARSAMDDTGTKRPPKPRLGEELQVTTVTQNSVGLSWTVPEGQFDSFVVQYKDRDGQPQVVPVEGSLREVSVPGLDPAHRYKLLLYGLHHGKRVGPISAVAITAGREETETETTAPTPPAPEPHLGELTVEEATSHTLHLSWMVTEGEFDSFEIQYTDRDGQLQMVRIGGDRNDITLSGLESDHRYLVTLYGFSDGKHVGPVHVEALTVPEEEKPSEPPTATPEPPIKPRLGELTVTDATPDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEEGVTISGLEPDHKYKMNLYGFHGGQRMGPVSVVGVTAAEEETPSPTEPSMEAPEPAEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSAVGVTAPEEESPDAPLAKLRLGQMTVRDITSDSLSLSWTVPEGQFDHFLVQFKNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPVSAVGLTAPGKDEEMAPASTEPPTPEPPIKPRLEELTVTDATPDSLSLSWTVPEGQFDHFLVQYKNGDGQPKATRVPGHEDRVTISGLEPDNKYKMNLYGFHGGQRVGPVSAIGVTAAEEETPSPTEPSMEAPEPPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVGVTAPQEDVDETPSPTEPGTEAPGPPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQAVRVGGQESKVTVRGLEPGRKYKMHLYGLHEGRRLGPVSAVGVTEDEAETTQAVPTMTPEPPIKPRLGELTMTDATPDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPISVIGVTAAEEETPSPTELSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQGHFDSFTVQYKDRDGRPQVMRVRGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVGVTEDEAETTQAVPTTTPEPPNKPRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRNGDGQPKVVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPISVIGVTAAEEETPAPTEPSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQGRFDSFTVQYKDRDGRPQVVRVRGEESEVTVGGLEPGCKYKMHLYGLHEGQRVGPVSAVGVTAPKDEAETTQAVPTMTPEPPIKPRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPVSAIGVTEEETPSPTEPSTEAPEAPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGQPQVVRVRGEESEVTVGGLEPGRKYKMHLYGLHEGQRVGPVSTVGITAPLPTPLPVEPRLGELAVAAVTSDSVGLSWTVAQGPFDSFLVQYRDAQGQPQAVPVSGDLRAVAVSGLDPARKYKFLLFGLQNGKRHGPVPVEARTAPDTKPSPRLGELTVTDATPDSVGLSWTVPEGEFDSFVVQYKDKDGRLQVVPVAANQREVTVQGLEPSRKYRFLLYGLSGRKRLGPISADSTTAPLEKELPPHLGELTVAEETSSSLRLSWTVAQGPFDSFVVQYRDTDGQPRAVPVAADQRTVTVEDLEPGKKYKFLLYGLLGGKRLGPVSALGMTAPEEDTPAPELAPEAPEPPEEPRLGVLTVTDTTPDSMRLSWSVAQGPFDSFVVQYEDTNGQPQALLVDGDQSKILISGLEPSTPYRFLLYGLHEGKRLGPLSAEGTTGLAPAGQTSEESRPRLSQLSVTDVTTSSLRLNWEAPPGAFDSFLLRFGVPSPSTLEPHPRPLLQRELMVPGTRHSAVLRDLRSGTLYSLTLYGLRGPHKADSIQGTARTLSPVLESPRDLQFSEIRETSAKVNWMPPPSRADSFKVSYQLADGGEPQSVQVDGQARTQKLQGLIPGARYEVTVVSVRGFEESEPLTGFLTTVPDGPTQLRALNLTEGFAVLHWKPPQNPVDTYDVQVTAPGAPPLQAETPGSAVDYPLHDLVLHTNYTATVRGLRGPNLTSPASITFTTGLEAPRDLEAKEVTPRTALLTWTEPPVRPAGYLLSFHTPGGQNQEILLPGGITSHQLLGLFPSTSYNARLQAMWGQSLLPPVSTSFTTGGLRIPFPRDCGEEMQNGAGASRTSTIFLNGNRERPLNVFCDMETDGGGWLVFQRRMDGQTDFWRDWEDYAHGFGNISGEFWLGNEALHSLTQAGDYSMRVDLRAGDEAVFAQYDSFHVDSAAEYYRLHLEGYHGTAGDSMSYHSGSVFSARDRDPNSLLISCAVSYRGAWWYRNCHYANLNGLYGSTVDHQGVSWYHWKGFEFSVPFTEMKLRPRNFRSPAGGG", "length": 4242, "header": "sp|P22105-1|TENX_HUMAN Isoform 1 of Tenascin-X OS=Homo sapiens OX=9606 GN=TNXB PE=1 SV=5 CANONICAL=P22105-3" }, "locus": {} }, { "isoform_ac": "P22105-2", "url": "https://www.uniprot.org/uniprotkb/P22105/entry#P22105-2", "sequence": { "sequence": "MRLSWSVAQGPFDSFVVQYEDTNGQPQALLVDGDQSKILISGLEPSTPYRFLLYGLHEGKRLGPLSAEGTTGLAPAGQTSEESRPRLSQLSVTDVTTSSLRLNWEAPPGAFDSFLLRFGVPSPSTLEPHPRPLLQRELMVPGTRHSAVLRDLRSGTLYSLTLYGLRGPHKADSIQGTARTLSPVLESPRDLQFSEIRETSAKVNWMPPPSRADSFKVSYQLADGGEPQSVQVDGQARTQKLQGLIPGARYEVTVVSVRGFEESEPLTGFLTTVPDGPTQLRALNLTEGFAVLHWKPPQNPVDTYDVQVTAPGAPPLQAETPGSAVDYPLHDLVLHTNYTATVRGLRGPNLTSPASITFTTGLEAPRDLEAKEVTPRTALLTWTEPPVRPAGYLLSFHTPGGQNQEILLPGGITSHQLLGLFPSTSYNARLQAMWGQSLLPPVSTSFTTGGLRIPFPRDCGEEMQNGAGASRTSTIFLNGNRERPLNVFCDMETDGGGWLVFQRRMDGQTDFWRDWEDYAHGFGNISGEFWLGNEALHSLTQAGDYSMRVDLRAGDEAVFAQYDSFHVDSAAEYYRLHLEGYHGTAGDSMSYHSGSVFSARDRDPNSLLISCAVSYRGAWWYRNCHYANLNGLYGSTVDHQGVSWYHWKGFEFSVPFTEMKLRPRNFRSPAGGG", "length": 673, "header": "sp|P22105-2|TENX_HUMAN Isoform 2 of Tenascin-X OS=Homo sapiens OX=9606 GN=TNXB PE=1 SV=5 CANONICAL=P22105-3" }, "locus": { "chromosome": "6", "start_pos": 32045219, "end_pos": 32041352, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451343.4", "url": "https://www.ensembl.org/id/ENST00000451343.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000407685.1", "url": "https://www.ensembl.org/id/ENSP00000407685.1" } ] } }, { "isoform_ac": "P22105-3", "url": "https://www.uniprot.org/uniprotkb/P22105/entry#P22105-3", "sequence": { "sequence": "MMPAQYALTSSLVLLVLLSTARAGPFSSRSNVTLPAPRPPPQPGGHTVGAGVGSPSSQLYEHTVEGGEKQVVFTHRINLPPSTGCGCPPGTEPPVLASEVQALRVRLEILEELVKGLKEQCTGGCCPASAQAGTGQTDVRTLCSLHGVFDLSRCTCSCEPGWGGPTCSDPTDAEIPPSSPPSASGSCPDDCNDQGRCVRGRCVCFPGYTGPSCGWPSCPGDCQGRGRCVQGVCVCRAGFSGPDCSQRSCPRGCSQRGRCEGGRCVCDPGYTGDDCGMRSCPRGCSQRGRCENGRCVCNPGYTGEDCGVRSCPRGCSQRGRCKDGRCVCDPGYTGEDCGTRSCPWDCGEGGRCVDGRCVCWPGYTGEDCSTRTCPRDCRGRGRCEDGECICDTGYSGDDCGVRSCPGDCNQRGRCEDGRCVCWPGYTGTDCGSRACPRDCRGRGRCENGVCVCNAGYSGEDCGVRSCPGDCRGRGRCESGRCMCWPGYTGRDCGTRACPGDCRGRGRCVDGRCVCNPGFTGEDCGSRRCPGDCRGHGLCEDGVCVCDAGYSGEDCSTRSCPGGCRGRGQCLDGRCVCEDGYSGEDCGVRQCPNDCSQHGVCQDGVCICWEGYVSEDCSIRTCPSNCHGRGRCEEGRCLCDPGYTGPTCATRMCPADCRGRGRCVQGVCLCHVGYGGEDCGQEEPPASACPGGCGPRELCRAGQCVCVEGFRGPDCAIQTCPGDCRGRGECHDGSCVCKDGYAGEDCGEEVPTIEGMRMHLLEETTVRTEWTPAPGPVDAYEIQFIPTTEGASPPFTARVPSSASAYDQRGLAPGQEYQVTVRALRGTSWGLPASKTITTMIDGPQDLRVVAVTPTTLELGWLRPQAEVDRFVVSYVSAGNQRVRLEVPPEADGTLLTDLMPGVEYVVTVTAERGRAVSYPASVRANTGSSPLGLLGTTDEPPPSGPSTTQGAQAPLLQQRPQELGELRVLGRDETGRLRVVWTAQPDTFAYFQLRMRVPEGPGAHEEVLPGDVRQALVPPPPPGTPYELSLHGVPPGGKPSDPIIYQGIMDKDEEKPGKSSGPPRLGELTVTDRTSDSLLLRWTVPEGEFDSFVIQYKDRDGQPQVVPVEGPQRSAVITSLDPGRKYKFVLYGFVGKKRHGPLVAEAKILPQSDPSPGTPPHLGNLWVTDPTPDSLHLSWTVPEGQFDTFMVQYRDRDGRPQVVPVEGPERSFVVSSLDPDHKYRFTLFGIANKKRYGPLTADGTTAPERKEEPPRPEFLEQPLLGELTVTGVTPDSLRLSWTVAQGPFDSFMVQYKDAQGQPQAVPVAGDENEVTVPGLDPDRKYKMNLYGLRGRQRVGPESVVAKTAPQEDVDETPSPTELGTEAPESPEEPLLGELTVTGSSPDSLSLFWTVPQGSFDSFTVQYKDRDGRPRAVRVGGKESEVTVGGLEPGHKYKMHLYGLHEGQRVGPVSAVGVTAPQQEETPPATESPLEPRLGELTVTDVTPNSVGLSWTVPEGQFDSFIVQYKDKDGQPQVVPVAADQREVTVYNLEPERKYKMNMYGLHDGQRMGPLSVVIVTAPLPPAPATEASKPPLEPRLGELTVTDITPDSVGLSWTVPEGEFDSFVVQYKDRDGQPQVVPVAADQREVTIPDLEPSRKYKFLLFGIQDGKRRSPVSVEAKTVARGDASPGAPPRLGELWVTDPTPDSLRLSWTVPEGQFDSFVVQFKDKDGPQVVPVEGHERSVTVTPLDAGRKYRFLLYGLLGKKRHGPLTADGTTEARSAMDDTGTKRPPKPRLGEELQVTTVTQNSVGLSWTVPEGQFDSFVVQYKDRDGQPQVVPVEGSLREVSVPGLDPAHRYKLLLYGLHHGKRVGPISAVAITAGREETETETTAPTPPAPEPHLGELTVEEATSHTLHLSWMVTEGEFDSFEIQYTDRDGQLQMVRIGGDRNDITLSGLESDHRYLVTLYGFSDGKHVGPVHVEALTVPEEEKPSEPPTATPEPPIKPRLGELTVTDATPDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEEGVTISGLEPDHKYKMNLYGFHGGQRMGPVSVVGVTAAEEETPSPTEPSMEAPEPAEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSAVGVTAPEEESPDAPLAKLRLGQMTVRDITSDSLSLSWTVPEGQFDHFLVQFKNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPVSAVGLTAPGKDEEMAPASTEPPTPEPPIKPRLEELTVTDATPDSLSLSWTVPEGQFDHFLVQYKNGDGQPKATRVPGHEDRVTISGLEPDNKYKMNLYGFHGGQRVGPVSAIGVTAAEEETPSPTEPSMEAPEPPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVGVTAPQEDVDETPSPTEPGTEAPGPPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQAVRVGGQESKVTVRGLEPGRKYKMHLYGLHEGRRLGPVSAVGVTEDEAETTQAVPTMTPEPPIKPRLGELTMTDATPDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPISVIGVTAAEEETPSPTELSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQGHFDSFTVQYKDRDGRPQVMRVRGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVGVTAPEDEAETTQAVPTTTPEPPNKPRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRNGDGQPKVVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPISVIGVTAAEEETPAPTEPSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQGRFDSFTVQYKDRDGRPQVVRVRGEESEVTVGGLEPGCKYKMHLYGLHEGQRVGPVSAVGVTAPKDEAETTQAVPTMTPEPPIKPRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPVSAIGVTEEETPSPTEPSTEAPEAPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGQPQVVRVRGEESEVTVGGLEPGRKYKMHLYGLHEGQRVGPVSTVGITAPLPTPLPVEPRLGELAVAAVTSDSVGLSWTVAQGPFDSFLVQYRDAQGQPQAVPVSGDLRAVAVSGLDPARKYKFLLFGLQNGKRHGPVPVEARTAPDTKPSPRLGELTVTDATPDSVGLSWTVPEGEFDSFVVQYKDKDGRLQVVPVAANQREVTVQGLEPSRKYRFLLYGLSGRKRLGPISADSTTAPLEKELPPHLGELTVAEETSSSLRLSWTVAQGPFDSFVVQYRDTDGQPRAVPVAADQRTVTVEDLEPGKKYKFLLYGLLGGKRLGPVSALGMTAPEEDTPAPELAPEAPEPPEEPRLGVLTVTDTTPDSMRLSWSVAQGPFDSFVVQYEDTNGQPQALLVDGDQSKILISGLEPSTPYRFLLYGLHEGKRLGPLSAEGTTGLAPAGQTSEESRPRLSQLSVTDVTTSSLRLNWEAPPGAFDSFLLRFGVPSPSTLEPHPRPLLQRELMVPGTRHSAVLRDLRSGTLYSLTLYGLRGPHKADSIQGTARTLSPVLESPRDLQFSEIRETSAKVNWMPPPSRADSFKVSYQLADGGEPQSVQVDGQARTQKLQGLIPGARYEVTVVSVRGFEESEPLTGFLTTVPDGPTQLRALNLTEGFAVLHWKPPQNPVDTYDVQVTAPGAPPLQAETPGSAVDYPLHDLVLHTNYTATVRGLRGPNLTSPASITFTTGLEAPRDLEAKEVTPRTALLTWTEPPVRPAGYLLSFHTPGGQNQEILLPGGITSHQLLGLFPSTSYNARLQAMWGQSLLPPVSTSFTTGGLRIPFPRDCGEEMQNGAGASRTSTIFLNGNRERPLNVFCDMETDGGGWLVFQRRMDGQTDFWRDWEDYAHGFGNISGEFWLGNEALHSLTQAGDYSMRVDLRAGDEAVFAQYDSFHVDSAAEYYRLHLEGYHGTAGDSMSYHSGSVFSARDRDPNSLLISCAVSYRGAWWYRNCHYANLNGLYGSTVDHQGVSWYHWKGFEFSVPFTEMKLRPRNFRSPAGGG", "length": 4244, "header": "sp|P22105-3|TENX_HUMAN Isoform 3 of Tenascin-X OS=Homo sapiens OX=9606 GN=TNXB PE=1 SV=5 CANONICAL=P22105-3" }, "locus": { "chromosome": "6", "start_pos": 32098198, "end_pos": 32041352, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000375244.7", "url": "https://www.ensembl.org/id/ENST00000375244.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000364393.3", "url": "https://www.ensembl.org/id/ENSP00000364393.3" } ] } }, { "isoform_ac": "P22105-4", "url": "https://www.uniprot.org/uniprotkb/P22105/entry#P22105-4", "sequence": { "sequence": "MMPAQYALTSSLVLLVLLSTARAGPFSSRSNVTLPAPRPPPQPGGHTVGAGVGSPSSQLYEHTVEGGEKQVVFTHRINLPPSTGCGCPPGTEPPVLASEVQALRVRLEILEELVKGLKEQCTGGCCPASAQAGTGEQGQTDVRTLCSLHGVFDLSRCTCSCEPGWGGPTCSDPTDAEIPPSSPPSASGSCPDDCNDQGRCVRGRCVCFPGYTGPSCGWPSCPGDCQGRGRCVQGVCVCRAGFSGPDCSQRSCPRGCSQRGRCEGGRCVCDPGYTGDDCGMRSCPRGCSQRGRCENGRCVCNPGYTGEDCGVRSCPRGCSQRGRCKDGRCVCDPGYTGEDCGTRSCPWDCGEGGRCVDGRCVCWPGYTGEDCSTRTCPRDCRGRGRCEDGECICDTGYSGDDCGVRSCPGDCNQRGRCEDGRCVCWPGYTGTDCGSRACPRDCRGRGRCENGVCVCNAGYSGEDCGVRSCPGDCRGRGRCESGRCMCWPGYTGRDCGTRACPGDCRGRGRCVDGRCVCNPGFTGEDCGSRRCPGDCRGHGLCEDGVCVCDAGYSGEDCSTRSCPGGCRGRGQCLDGRCVCEDGYSGEDCGVRQCPNDCSQHGVCQDGVCICWEGYVSEDCSIRTCPSNCHGRGRCEEGRCLCDPGYTGPTCATRMCPADCRGRGRCVQGVCLCHVGYGGEDCGQEEPPASACPGGCGPRELCRAGQCVCVEGFRGPDCAIQTCPGDCRGRGECHDGSCVCKDGYAGEDCGEEVPTIEGMRMHLLEETTVRTEWTPAPGPVDAYEIQFIPTTEGASPPFTARVPSSASAYDQRGLAPGQEYQVTVRALRGTSWGLPASKTITTMIDGPQDLRVVAVTPTTLELGWLRPQAEVDRFVVSYVSAGNQRVRLEVPPEADGTLLTDLMPGVEYVVTVTAERGRAVSYPASVRANTGSSPLGLLGTTDEPPPSGPSTTQGAQAPLLQQRPQELGELRVLGRDETGRLRVVWTAQPDTFAYFQLRMRVPEGPGAHEEVLPGDVRQALVPPPPPGTPYELSLHGVPPGGKPSDPIIYQGIMDKDEEKPGKSSGPPRLGELTVTDRTSDSLLLRWTVPEGEFDSFVIQYKDRDGQPQVVPVEGPQRSAVITSLDPGRKYKFVLYGFVGKKRHGPLVAEAKILPQSDPSPGTPPHLGNLWVTDPTPDSLHLSWTVPEGQFDTFMVQYRDRDGRPQVVPVEGPERSFVVSSLDPDHKYRFTLFGIANKKRYGPLTADGTTAPERKEEPPRPEFLEQPLLGELTVTGVTPDSLRLSWTVAQGPFDSFMVQYKDAQGQPQAVPVAGDENEVTVPGLDPDRKYKMNLYGLRGRQRVGPESVVAKTAPQEDVDETPSPTELGTEAPESPEEPLLGELTVTGSSPDSLSLFWTVPQGSFDSFTVQYKDRDGRPRAVRVGGKESEVTVGGLEPGHKYKMHLYGLHEGQRVGPVSAVGVTAPQQEETPPATESPLEPRLGELTVTDVTPNSVGLSWTVPEGQFDSFIVQYKDKDGQPQVVPVAADQREVTVYNLEPERKYKMNMYGLHDGQRMGPLSVVIVTAPLPPAPATEASKPPLEPRLGELTVTDITPDSVGLSWTVPEGEFDSFVVQYKDRDGQPQVVPVAADQREVTIPDLEPSRKYKFLLFGIQDGKRRSPVSVEAKTVARGDASPGAPPRLGELWVTDPTPDSLRLSWTVPEGQFDSFVVQFKDKDGPQVVPVEGHERSVTVTPLDAGRKYRFLLYGLLGKKRHGPLTADGTTEARSAMDDTGTKRPPKPRLGEELQVTTVTQNSVGLSWTVPEGQFDSFVVQYKDRDGQPQVVPVEGSLREVSVPGLDPAHRYKLLLYGLHHGKRVGPISAVAITAGREETETETTAPTPPAPEPHLGELTVEEATSHTLHLSWMVTEGEFDSFEIQYTDRDGQLQMVRIGGDRNDITLSGLESDHRYLVTLYGFSDGKHVGPVHVEALTVPEEEKPSEPPTATPEPPIKPRLGELTVTDATPDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEEGVTISGLEPDHKYKMNLYGFHGGQRMGPVSVVGVTAAEEETPSPTEPSMEAPEPAEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSAVGVTAPEEESPDAPLAKLRLGQMTVRDITSDSLSLSWTVPEGQFDHFLVQFKNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPVSAVGLTAPGKDEEMAPASTEPPTPEPPIKPRLEELTVTDATPDSLSLSWTVPEGQFDHFLVQYKNGDGQPKATRVPGHEDRVTISGLEPDNKYKMNLYGFHGGQRVGPVSAIGVTAAEEETPSPTEPSMEAPEPPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVGVTAPQEDVDETPSPTEPGTEAPGPPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQAVRVGGQESKVTVRGLEPGRKYKMHLYGLHEGRRLGPVSAVGVTEDEAETTQAVPTMTPEPPIKPRLGELTMTDATPDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPISVIGVTAAEEETPSPTELSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQGHFDSFTVQYKDRDGRPQVMRVRGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVGVTEDEAETTQAVPTTTPEPPNKPRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRNGDGQPKVVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPISVIGVTAAEEETPAPTEPSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQGRFDSFTVQYKDRDGRPQVVRVRGEESEVTVGGLEPGCKYKMHLYGLHEGQRVGPVSAVGVTAPKDEAETTQAVPTMTPEPPIKPRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPVSAIGVTEEETPSPTEPSTEAPEAPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGQPQVVRVRGEESEVTVGGLEPGRKYKMHLYGLHEGQRVGPVSTVGITAPLPTPLPVEPRLGELAVAAVTSDSVGLSWTVAQGPFDSFLVQYRDAQGQPQAVPVSGDLRAVAVSGLDPARKYKFLLFGLQNGKRHGPVPVEARTAPDTKPSPRLGELTVTDATPDSVGLSWTVPEGEFDSFVVQYKDKDGRLQVVPVAANQREVTVQGLEPSRKYRFLLYGLSGRKRLGPISADSTTAPLEKELPPHLGELTVAEETSSSLRLSWTVAQGPFDSFVVQYRDTDGQPRAVPVAADQRTVTVEDLEPGKKYKFLLYGLLGGKRLGPVSALGMTAPEEDTPAPELAPEAPEPPEEPRLGVLTVTDTTPDSMRLSWSVAQGPFDSFVVQYEDTNGQPQALLVDGDQSKILISGLEPSTPYRFLLYGLHEGKRLGPLSAEGTTGLAPAGQTSEESRPRLSQLSVTDVTTSSLRLNWEAPPGAFDSFLLRFGVPSPSTLEPHPRPLLQRELMVPGTRHSAVLRDLRSGTLYSLTLYGLRGPHKADSIQGTARTLSPVLESPRDLQFSEIRETSAKVNWMPPPSRADSFKVSYQLADGGEPQSVQVDGQARTQKLQGLIPGARYEVTVVSVRGFEESEPLTGFLTTVPDGPTQLRALNLTEGFAVLHWKPPQNPVDTYDVQVTAPGAPPLQAETPGSAVDYPLHDLVLHTNYTATVRGLRGPNLTSPASITFTTGLEAPRDLEAKEVTPRTALLTWTEPPVRPAGYLLSFHTPGGQNQEILLPGGITSHQLLGLFPSTSYNARLQAMWGQSLLPPVSTSFTTGGLRIPFPRDCGEEMQNGAGASRTSTIFLNGNRERPLNVFCDMETDGGGWLVFQRRMDGQTDFWRDWEDYAHGFGNISGEFWLGNEALHSLTQAGDYSMRVDLRAGDEAVFAQYDSFHVDSAAEYYRLHLEGYHGTAGDSMSYHSGSVFSARDRDPNSLLISCAVSYRGAWWYRNCHYANLNGLYGSTVDHQGVSWYHWKGFEFSVPFTEMKLRPRNFRSPAGGG", "length": 4245, "header": "sp|P22105-4|TENX_HUMAN Isoform 4 of Tenascin-X OS=Homo sapiens OX=9606 GN=TNXB PE=1 SV=5 CANONICAL=P22105-3" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1158, "start_aa": "Thr", "end_pos": 1158, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1158", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1180, "start_aa": "Thr", "end_pos": 1180, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1180", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RKYKMNLYGLRGRQR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_pos": 1323, "start_aa": "Arg", "end_pos": 1337, "end_aa": "Arg", "evidence": [ { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1364, "start_aa": "Thr", "end_pos": 1364, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1364", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1469, "start_aa": "Thr", "end_pos": 1469, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1469", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1469, "start_aa": "Thr", "end_pos": 1469, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1469", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1569, "start_aa": "Thr", "end_pos": 1569, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1569", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1569, "start_aa": "Thr", "end_pos": 1569, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1569", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 166, "start_aa": "Thr", "end_pos": 166, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr166", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Ser", "end_pos": 178, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser178", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Ser", "end_pos": 178, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser178", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1862, "start_aa": "Thr", "end_pos": 1862, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1862", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1872, "start_aa": "Thr", "end_pos": 1872, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1872", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1873, "start_aa": "Thr", "end_pos": 1873, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1873", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1876, "start_aa": "Thr", "end_pos": 1876, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1876", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1876, "start_aa": "Thr", "end_pos": 1876, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1876", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1981, "start_aa": "Thr", "end_pos": 1981, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1981", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2083, "start_aa": "Thr", "end_pos": 2083, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2083", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2083, "start_aa": "Thr", "end_pos": 2083, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2083", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2292, "start_aa": "Ser", "end_pos": 2292, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2292", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2297, "start_aa": "Thr", "end_pos": 2297, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2297", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2324, "start_aa": "Thr", "end_pos": 2324, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2324", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2324, "start_aa": "Thr", "end_pos": 2324, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2324", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2357, "start_aa": "Thr", "end_pos": 2357, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2357", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2399, "start_aa": "Thr", "end_pos": 2399, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2399", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2399, "start_aa": "Thr", "end_pos": 2399, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2399", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2510, "start_aa": "Thr", "end_pos": 2510, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2510", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2514, "start_aa": "Thr", "end_pos": 2514, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2514", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2649, "start_aa": "Thr", "end_pos": 2649, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2649", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G58001LT", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2837, "start_aa": "Thr", "end_pos": 2837, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2837", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2838, "start_aa": "Thr", "end_pos": 2838, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2838", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2838, "start_aa": "Thr", "end_pos": 2838, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2838", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2943, "start_aa": "Ser", "end_pos": 2943, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2943", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2944, "start_aa": "Thr", "end_pos": 2944, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2944", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3052, "start_aa": "Thr", "end_pos": 3052, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3052", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3054, "start_aa": "Thr", "end_pos": 3054, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3054", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3054, "start_aa": "Thr", "end_pos": 3054, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3054", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3154, "start_aa": "Thr", "end_pos": 3154, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3154", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3158, "start_aa": "Thr", "end_pos": 3158, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3158", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 31, "start_aa": "Asn", "end_pos": 31, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn31", "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3257, "start_aa": "Thr", "end_pos": 3257, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3257", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3541, "start_aa": "Thr", "end_pos": 3541, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3541", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3541, "start_aa": "Thr", "end_pos": 3541, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3541", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G11629QQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3855, "start_aa": "Asn", "end_pos": 3855, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3855", "evidence": [ { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" }, { "id": "1794", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1794" } ] }, { "glytoucan_ac": "G15169WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3855, "start_aa": "Asn", "end_pos": 3855, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3855", "evidence": [ { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" }, { "id": "1794", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1794" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3855, "start_aa": "Asn", "end_pos": 3855, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3855", "evidence": [ { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" }, { "id": "1794", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1794" } ] }, { "glytoucan_ac": "G39595FH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3855, "start_aa": "Asn", "end_pos": 3855, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3855", "evidence": [ { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" }, { "id": "1794", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1794" } ] }, { "glytoucan_ac": "G64394MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3855, "start_aa": "Asn", "end_pos": 3855, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3855", "evidence": [ { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" }, { "id": "1794", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1794" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3855, "start_aa": "Asn", "end_pos": 3855, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3855", "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3880, "start_aa": "Thr", "end_pos": 3880, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3880", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3908, "start_aa": "Asn", "end_pos": 3908, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3908", "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105#ptm_processing" } ] }, { "glytoucan_ac": "G04657PL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G14972EH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G27058EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G27126ED", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G28622IK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G38663NM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" }, { "id": "1794", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1794" } ] }, { "glytoucan_ac": "G40834TG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G43223CG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G45395BF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G70232NH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLRGPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G86880BF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G90382BL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLRGPnLTSPASITFTTGLEAPR", "relation": "attached", "comment": "reported site N3918 is on non-canonical isoform P22105-1 which maps to canonical isoform site P22105-3:3920", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3920, "start_aa": "Asn", "end_pos": 3920, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3920", "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105#ptm_processing" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3922, "start_aa": "Thr", "end_pos": 3922, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3922", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3923, "start_aa": "Ser", "end_pos": 3923, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser3923", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 4095, "start_aa": "Asn", "end_pos": 4095, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4095", "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 47, "start_aa": "Thr", "end_pos": 47, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr47", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 54, "start_aa": "Ser", "end_pos": 54, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser54", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 643, "start_aa": "Thr", "end_pos": 643, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr643", "evidence": [ { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "P22105", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P22105" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "P22105", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P22105" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 646, "start_aa": "Thr", "end_pos": 646, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr646", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 83, "start_aa": "Thr", "end_pos": 83, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr83", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 852, "start_aa": "Thr", "end_pos": 852, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr852", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 91, "start_aa": "Thr", "end_pos": 91, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr91", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 91, "start_aa": "Thr", "end_pos": 91, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr91", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 936, "start_aa": "Thr", "end_pos": 936, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr936", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G35029YA", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 937, "start_aa": "Thr", "end_pos": 937, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr937", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 937, "start_aa": "Thr", "end_pos": 937, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr937", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 937, "start_aa": "Thr", "end_pos": 937, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr937", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 943, "start_aa": "Ser", "end_pos": 943, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser943", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 946, "start_aa": "Ser", "end_pos": 946, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser946", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G73004SD", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 946, "start_aa": "Ser", "end_pos": 946, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser946", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 947, "start_aa": "Thr", "end_pos": 947, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr947", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 947, "start_aa": "Thr", "end_pos": 947, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr947", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 948, "start_aa": "Thr", "end_pos": 948, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr948", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 948, "start_aa": "Thr", "end_pos": 948, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr948", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins.", "journal": "The EMBO journal", "date": "1999", "authors": "Talts JF, Andac Z, Gohring W, Brancaccio A, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10022829", "url": "https://glygen.org/publication/PubMed/10022829" } ] }, { "title": "Agrin in Alzheimer's disease: altered solubility and abnormal distribution within microvasculature and brain parenchyma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Donahue JE, Berzin TM, Rafii MS, Glass DJ, Yancopoulos GD, Fallon JR, Stopa EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10339611", "url": "https://glygen.org/publication/PubMed/10339611" } ] }, { "title": "Agrin binds to beta-amyloid (Abeta), accelerates abeta fibril formation, and is localized to Abeta deposits in Alzheimer's disease brain.", "journal": "Molecular and cellular neurosciences", "date": "2000", "authors": "Cotman SL, Halfter W, Cole GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10673326", "url": "https://glygen.org/publication/PubMed/10673326" } ] }, { "title": "Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegard D, Paulsson M, Maurer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "11084047", "url": "https://glygen.org/publication/PubMed/11084047" } ] }, { "title": "Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Wiberg C, Hedbom E, Khairullina A, Lamande SR, Oldberg A, Timpl R, Morgelin M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "11259413", "url": "https://glygen.org/publication/PubMed/11259413" } ] }, { "title": "Identification and characterization of a conformational heparin-binding site involving two fibronectin type III modules of bovine tenascin-X.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lethias C, Elefteriou F, Parsiegla G, Exposito JY, Garrone R", "evidence": [ { "database": "MatrixDB", "id": "GAG_1", "url": "https://matrixdb.univ-lyon1.fr/biomolecule/GAG_1" } ], "reference": [ { "type": "PubMed", "id": "11278641", "url": "https://glygen.org/publication/PubMed/11278641" } ] }, { "title": "A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.", "journal": "N. Engl. J. Med.", "date": "2001", "authors": "Schalkwijk J, Zweers M C, Steijlen P M, Dean W B, Taylor G, van Vlijmen I M, van Haren B, Miller W L, Bristow J", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "database": "dbSNP", "id": "rs764070148", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764070148" } ], "reference": [ { "type": "PubMed", "id": "11642233", "url": "https://glygen.org/publication/PubMed/11642233" } ] }, { "title": "Matrix-matrix interaction of cartilage oligomeric matrix protein and fibronectin.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2002", "authors": "Di Cesare PE, Chen FS, Moergelin M, Carlson CS, Leslie MP, Perris R, Fang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "12225811", "url": "https://glygen.org/publication/PubMed/12225811" } ] }, { "title": "Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.", "journal": "American journal of human genetics", "date": "2003-07", "authors": "Zweers Manon C, Bristow Jim, Steijlen Peter M, Dean Willow B, Hamel Ben C, Otero Marisol, Kucharekova Martina, Boezeman Jan B, Schalkwijk Joost", "evidence": [ { "database": "dbSNP", "id": "rs764070148", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764070148" } ], "reference": [ { "type": "PubMed", "id": "12865992", "url": "https://glygen.org/publication/PubMed/12865992" } ] }, { "title": "Cluster of fibronectin type III repeats found in the human major histocompatibility complex class III region shows the highest homology with the repeats in an extracellular matrix protein, tenascin.", "journal": "Genomics", "date": "1992", "authors": "Matsumoto K, Arai M, Ishihara N, Ando A, Inoko H, Ikemura T", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "reference": [ { "type": "PubMed", "id": "1373119", "url": "https://glygen.org/publication/PubMed/1373119" } ] }, { "title": "Mapping of binding sites for heparin, plasminogen activator inhibitor-1, and plasminogen to vitronectin's heparin-binding region reveals a novel vitronectin-dependent feedback mechanism for the control of plasmin formation.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Kost C, Stuber W, Ehrlich HJ, Pannekoek H, Preissner KT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "1376317", "url": "https://glygen.org/publication/PubMed/1376317" } ] }, { "title": "Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse.", "journal": "Genome Res.", "date": "2003", "authors": "Xie T, Rowen L, Aguado B, Ahearn ME, Madan A, Qin S, Campbell RD, Hood L", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "reference": [ { "type": "PubMed", "id": "14656967", "url": "https://glygen.org/publication/PubMed/14656967" } ] }, { "title": "Neurite outgrowth by the alternatively spliced region of human tenascin-C is mediated by neuronal alpha7beta1 integrin.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2004", "authors": "Mercado ML, Nur-e-Kamal A, Liu HY, Gross SR, Movahed R, Meiners S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "14715956", "url": "https://glygen.org/publication/PubMed/14715956" } ] }, { "title": "Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Mann HH, Ozbek S, Engel J, Paulsson M, Wagener R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "15075323", "url": "https://glygen.org/publication/PubMed/15075323" } ] }, { "title": "Structural basis for interactions between tenascins and lectican C-type lectin domains: evidence for a crosslinking role for tenascins.", "journal": "Structure (London, England : 1993)", "date": "2004", "authors": "Lundell A, Olin AI, Morgelin M, al-Karadaghi S, Aspberg A, Logan DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "15296743", "url": "https://glygen.org/publication/PubMed/15296743" } ] }, { "title": "Binding of the proteoglycan decorin to collagen type VI.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Bidanset DJ, Guidry C, Rosenberg LC, Choi HU, Timpl R, Hook M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "1544908", "url": "https://glygen.org/publication/PubMed/1544908" } ] }, { "title": "Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.", "journal": "Clinical genetics", "date": "2005", "authors": "Zweers MC, Dean WB, van Kuppevelt TH, Bristow J, Schalkwijk J", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "database": "dbSNP", "id": "rs121912575", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912575" } ], "reference": [ { "type": "PubMed", "id": "15733269", "url": "https://glygen.org/publication/PubMed/15733269" } ] }, { "title": "Interactions between collagen IX and biglycan measured by atomic force microscopy.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Chen CH, Yeh ML, Geyer M, Wang GJ, Huang MH, Heggeness MH, Hook M, Luo ZP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "16293224", "url": "https://glygen.org/publication/PubMed/16293224" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "J. Proteome Res.", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Involvement of tenascin-C and PG-M/versican in flexor tenosynovial pathology of idiopathic carpal tunnel syndrome.", "journal": "Histology and histopathology", "date": "2006", "authors": "Tsujii M, Hirata H, Yoshida T, Imanaka-Yoshida K, Morita A, Uchida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "16493581", "url": "https://glygen.org/publication/PubMed/16493581" } ] }, { "title": "Interactions of human tenascin-X domains with dermal extracellular matrix molecules.", "journal": "Archives of dermatological research", "date": "2007-01", "authors": "Egging David, van den Berkmortel Franka, Taylor Glen, Bristow Jim, Schalkwijk Joost", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "reference": [ { "type": "PubMed", "id": "17033827", "url": "https://glygen.org/publication/PubMed/17033827" } ] }, { "title": "Identification and characterization of multiple species of tenascin-X in human serum.", "journal": "FEBS J.", "date": "2007", "authors": "Egging D F, Peeters A C T M, Grebenchtchikov N, Geurts-Moespot A, Sweep C G J, den Heijer M, Schalkwijk J", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "reference": [ { "type": "PubMed", "id": "17263730", "url": "https://glygen.org/publication/PubMed/17263730" } ] }, { "title": "Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Chen FH, Herndon ME, Patel N, Hecht JT, Tuan RS, Lawler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "17588949", "url": "https://glygen.org/publication/PubMed/17588949" } ] }, { "title": "Decorin interacts with fibrillar collagen of embryonic and adult human skin.", "journal": "Journal of structural biology", "date": "1991", "authors": "Fleischmajer R, Fisher LW, MacDonald ED, Jacobs L Jr, Perlish JS, Termine JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2059554", "url": "https://glygen.org/publication/PubMed/2059554" } ] }, { "title": "Dentin matrix protein 1 (DMP1) signals via cell surface integrin.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Wu H, Teng PN, Jayaraman T, Onishi S, Li J, Bannon L, Huang H, Close J, Sfeir C", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "21642437", "url": "https://glygen.org/publication/PubMed/21642437" } ] }, { "title": "Collagen I and III and their decorin modified surfaces studied by atomic force microscopy and the elucidation of their affinity toward positive apolipoprotein B-100 residue by quartz crystal microbalance.", "journal": "The Analyst", "date": "2011", "authors": "Witos J, Saint-Guirons J, Meinander K, D'Ulivo L, Riekkola ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "21789315", "url": "https://glygen.org/publication/PubMed/21789315" } ] }, { "title": "Dentin phosphoprotein (DPP) activates integrin-mediated anchorage-dependent signals in undifferentiated mesenchymal cells.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Eapen A, Ramachandran A, George A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "22134916", "url": "https://glygen.org/publication/PubMed/22134916" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "TNXB mutations can cause vesicoureteral reflux.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2013", "authors": "Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, Bartkowiak B, Rabinovich CE, Chandrasekharappa S, Homstad A, Westreich K, Wu G, Liu Y, Holanda D, Clarke J, Lavin P, Selim A, Miller S, Wiener JS, Ross SS, Foreman J, Rotimi C, Winn MP", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "database": "dbSNP", "id": "rs587777684", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777684" }, { "database": "dbSNP", "id": "rs587777683", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777683" } ], "reference": [ { "type": "PubMed", "id": "23620400", "url": "https://glygen.org/publication/PubMed/23620400" } ] }, { "title": "Immunoelectron microscopy of osteonectin and type I collagen in osteoblasts and bone matrix.", "journal": "Calcified tissue international", "date": "1990", "authors": "Romanowski R, Jundt G, Termine JD, von der Mark K, Schulz A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2364322", "url": "https://glygen.org/publication/PubMed/2364322" } ] }, { "title": "Compound heterozygous mutations of the TNXB gene cause primary myopathy.", "journal": "Neuromuscular disorders : NMD", "date": "2013", "authors": "Penisson-Besnier I, Allamand V, Beurrier P, Martin L, Schalkwijk J, van Vlijmen-Willems I, Gartioux C, Malfait F, Syx D, Macchi L, Marcorelles P, Arbeille B, Croue A, De Paepe A, Dubas F", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "database": "dbSNP", "id": "rs587777682", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777682" } ], "reference": [ { "type": "PubMed", "id": "23768946", "url": "https://glygen.org/publication/PubMed/23768946" } ] }, { "title": "A 125/115-kDa cell surface receptor specific for vitronectin interacts with the arginine-glycine-aspartic acid adhesion sequence derived from fibronectin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Pytela R, Pierschbacher MD, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2412224", "url": "https://glygen.org/publication/PubMed/2412224" } ] }, { "title": "Platelet membrane glycoprotein IIb/IIIa: member of a family of Arg-Gly-Asp--specific adhesion receptors.", "journal": "Science (New York, N.Y.)", "date": "1986", "authors": "Pytela R, Pierschbacher MD, Ginsberg MH, Plow EF, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2420006", "url": "https://glygen.org/publication/PubMed/2420006" } ] }, { "title": "Interaction of vitronectin with collagen.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Gebb C, Hayman EG, Engvall E, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2430969", "url": "https://glygen.org/publication/PubMed/2430969" } ] }, { "title": "Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1989", "authors": "Morel Y, Bristow J, Gitelman SE, Miller WL", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "reference": [ { "type": "PubMed", "id": "2475872", "url": "https://glygen.org/publication/PubMed/2475872" } ] }, { "title": "Diverse HLA-I Peptide Repertoires of the APC Lines MUTZ3-Derived Immature and Mature Dendritic Cells and THP1-Derived Macrophages.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2016-09-15", "authors": "Nyambura Lydon Wainaina, Jarmalavicius Saulius, Baleeiro Renato Brito, Walden Peter", "evidence": [ { "database": "IEDB", "id": "549710", "url": "https://www.iedb.org/epitope/549710" } ], "reference": [ { "type": "PubMed", "id": "27543614", "url": "https://glygen.org/publication/PubMed/27543614" } ] }, { "title": "Immunogenic HLA-DR-Presented Self-Peptides Identified Directly from Clinical Samples of Synovial Tissue, Synovial Fluid, or Peripheral Blood in Patients with Rheumatoid Arthritis or Lyme Arthritis.", "journal": "Journal of proteome research", "date": "2017-01-06", "authors": "Wang Qi, Drouin Elise E, Yao Chunxiang, Zhang Jiyang, Huang Yu, Leon Deborah R, Steere Allen C, Costello Catherine E", "evidence": [ { "database": "IEDB", "id": "592315", "url": "https://www.iedb.org/epitope/592315" }, { "database": "IEDB", "id": "592355", "url": "https://www.iedb.org/epitope/592355" } ], "reference": [ { "type": "PubMed", "id": "27726376", "url": "https://glygen.org/publication/PubMed/27726376" } ] }, { "title": "Purification of soluble HLA class I complexes from human serum or plasma deliver high quality immuno peptidomes required for biomarker discovery.", "journal": "Proteomics", "date": "2017-01", "authors": "Ritz Danilo, Gloger Andreas, Neri Dario, Fugmann Tim", "evidence": [ { "database": "IEDB", "id": "877836", "url": "https://www.iedb.org/epitope/877836" } ], "reference": [ { "type": "PubMed", "id": "27862975", "url": "https://glygen.org/publication/PubMed/27862975" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P22105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P22105" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "P22105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P22105" }, { "database": "O-GlcNAc Atlas", "id": "P22105", "url": "https://oglcnac.org/atlas/detail/P22105" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Deciphering HLA-I motifs across HLA peptidomes improves neo-antigen predictions and identifies allostery regulating HLA specificity.", "journal": "PLoS computational biology", "date": "2017-08", "authors": "Bassani-Sternberg Michal, Chong Chlo\u00e9, Guillaume Philippe, Solleder Marthe, Pak HuiSong, Gannon Philippe O, Kandalaft Lana E, Coukos George, Gfeller David", "evidence": [ { "database": "IEDB", "id": "702359", "url": "https://www.iedb.org/epitope/702359" }, { "database": "IEDB", "id": "720723", "url": "https://www.iedb.org/epitope/720723" } ], "reference": [ { "type": "PubMed", "id": "28832583", "url": "https://glygen.org/publication/PubMed/28832583" } ] }, { "title": "High-throughput and Sensitive Immunopeptidomics Platform Reveals Profound Interferon\u03b3-Mediated Remodeling of the Human Leukocyte Antigen (HLA) Ligandome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2018-03", "authors": "Chong Chloe, Marino Fabio, Pak HuiSong, Racle Julien, Daniel Roy T, M\u00fcller Markus, Gfeller David, Coukos George, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "1857255", "url": "https://www.iedb.org/epitope/1857255" }, { "database": "IEDB", "id": "1919717", "url": "https://www.iedb.org/epitope/1919717" } ], "reference": [ { "type": "PubMed", "id": "29242379", "url": "https://glygen.org/publication/PubMed/29242379" } ] }, { "title": "Large-scale intact glycopeptide identification by Mascot database search.", "journal": "Scientific reports", "date": "2018", "authors": "Bollineni RC, Koehler CJ, Gislefoss RE, Anonsen JH, Thiede B", "evidence": [ { "database": "GlyConnect", "id": "1794", "url": "https://glyconnect.expasy.org/browser/proteins/1794" } ], "reference": [ { "type": "PubMed", "id": "29391424", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "title": "The natural HLA ligandome of glioblastoma stem-like cells: antigen discovery for T cell-based immunotherapy.", "journal": "Acta neuropathologica", "date": "2018-06", "authors": "Neidert Marian Christoph, Kowalewski Daniel Johannes, Silginer Manuela, Kapolou Konstantina, Backert Linus, Freudenmann Lena Katharina, Peper Janet Kerstin, Marcu Ana, Wang Sophie Shih-Y\u00fcng, Walz Juliane Sarah, Wolpert Fabian, Rammensee Hans-Georg, Henschler Reinhard, Lamszus Katrin, Westphal Manfred, Roth Patrick, Regli Luca, Stevanovi\u0107 Stefan, Weller Michael, Eisele G\u00fcnter", "evidence": [ { "database": "IEDB", "id": "877836", "url": "https://www.iedb.org/epitope/877836" }, { "database": "IEDB", "id": "878677", "url": "https://www.iedb.org/epitope/878677" }, { "database": "IEDB", "id": "1088278", "url": "https://www.iedb.org/epitope/1088278" }, { "database": "IEDB", "id": "1091878", "url": "https://www.iedb.org/epitope/1091878" }, { "database": "IEDB", "id": "1112647", "url": "https://www.iedb.org/epitope/1112647" }, { "database": "IEDB", "id": "1113788", "url": "https://www.iedb.org/epitope/1113788" }, { "database": "IEDB", "id": "1118197", "url": "https://www.iedb.org/epitope/1118197" }, { "database": "IEDB", "id": "1118516", "url": "https://www.iedb.org/epitope/1118516" } ], "reference": [ { "type": "PubMed", "id": "29557506", "url": "https://glygen.org/publication/PubMed/29557506" } ] }, { "title": "Mapping the HLA Ligandome of Colorectal Cancer Reveals an Imprint of Malignant Cell Transformation.", "journal": "Cancer research", "date": "2018-08-15", "authors": "L\u00f6ffler Markus W, Kowalewski Daniel J, Backert Linus, Bernhardt J\u00f6rg, Adam Patrick, Schuster Heiko, Dengler Florian, Backes Daniel, Kopp Hans-Georg, Beckert Stefan, Wagner Silvia, K\u00f6nigsrainer Ingmar, Kohlbacher Oliver, Kanz Lothar, K\u00f6nigsrainer Alfred, Rammensee Hans-Georg, Stevanovi\u0107 Stefan, Haen Sebastian P", "evidence": [ { "database": "IEDB", "id": "877836", "url": "https://www.iedb.org/epitope/877836" } ], "reference": [ { "type": "PubMed", "id": "29789417", "url": "https://glygen.org/publication/PubMed/29789417" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Specific MHC-I Peptides Are Induced Using PROTACs.", "journal": "Frontiers in immunology", "date": "2018", "authors": "Jensen Stephanie M, Potts Gregory K, Ready Damien B, Patterson Melanie J", "evidence": [ { "database": "IEDB", "id": "869289", "url": "https://www.iedb.org/epitope/869289" } ], "reference": [ { "type": "PubMed", "id": "30524438", "url": "https://glygen.org/publication/PubMed/30524438" } ] }, { "title": "A large peptidome dataset improves HLA class I epitope prediction across most of the human population.", "journal": "Nature biotechnology", "date": "2020-02", "authors": "Sarkizova Siranush, Klaeger Susan, Le Phuong M, Li Letitia W, Oliveira Giacomo, Keshishian Hasmik, Hartigan Christina R, Zhang Wandi, Braun David A, Ligon Keith L, Bachireddy Pavan, Zervantonakis Ioannis K, Rosenbluth Jennifer M, Ouspenskaia Tamara, Law Travis, Justesen Sune, Stevens Jonathan, Lane William J, Eisenhaure Thomas, Lan Zhang Guang, Clauser Karl R, Hacohen Nir, Carr Steven A, Wu Catherine J, Keskin Derin B", "evidence": [ { "database": "IEDB", "id": "877836", "url": "https://www.iedb.org/epitope/877836" }, { "database": "IEDB", "id": "941044", "url": "https://www.iedb.org/epitope/941044" }, { "database": "IEDB", "id": "1037145", "url": "https://www.iedb.org/epitope/1037145" } ], "reference": [ { "type": "PubMed", "id": "31844290", "url": "https://glygen.org/publication/PubMed/31844290" } ] }, { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "1361834", "url": "https://www.iedb.org/epitope/1361834" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] }, { "title": "Spliced Peptides and Cytokine-Driven Changes in the Immunopeptidome of Melanoma.", "journal": "Cancer immunology research", "date": "2020-10", "authors": "Faridi Pouya, Woods Katherine, Ostrouska Simone, Deceneux Cyril, Aranha Ritchlynn, Duscharla Divya, Wong Stephen Q, Chen Weisan, Ramarathinam Sri H, Lim Kam Sian Terry C C, Croft Nathan P, Li Chen, Ayala Rochelle, Cebon Jonathan S, Purcell Anthony W, Schittenhelm Ralf B, Behren Andreas", "evidence": [ { "database": "IEDB", "id": "1973119", "url": "https://www.iedb.org/epitope/1973119" }, { "database": "IEDB", "id": "1976237", "url": "https://www.iedb.org/epitope/1976237" }, { "database": "IEDB", "id": "1991172", "url": "https://www.iedb.org/epitope/1991172" } ], "reference": [ { "type": "PubMed", "id": "32938616", "url": "https://glygen.org/publication/PubMed/32938616" } ] }, { "title": "CIITA-Transduced Glioblastoma Cells Uncover a Rich Repertoire of Clinically Relevant Tumor-Associated HLA-II Antigens.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Forlani Greta, Michaux Justine, Pak HuiSong, Huber Florian, Marie Joseph Elodie Lauret, Ramia Elise, Stevenson Brian J, Linnebacher Michael, Accolla Roberto S, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "1603140", "url": "https://www.iedb.org/epitope/1603140" } ], "reference": [ { "type": "PubMed", "id": "33592498", "url": "https://glygen.org/publication/PubMed/33592498" } ] }, { "title": "IFN\u03b3 Modulates the Immunopeptidome of Triple Negative Breast Cancer Cells by Enhancing and Diversifying Antigen Processing and Presentation.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Goncalves Gabriel, Mullan Kerry A, Duscharla Divya, Ayala Rochelle, Croft Nathan P, Faridi Pouya, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "1891634", "url": "https://www.iedb.org/epitope/1891634" }, { "database": "IEDB", "id": "1909660", "url": "https://www.iedb.org/epitope/1909660" } ], "reference": [ { "type": "PubMed", "id": "33968037", "url": "https://glygen.org/publication/PubMed/33968037" } ] }, { "title": "The Effect of Interferons on Presentation of Defective Ribosomal Products as HLA Peptides.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Komov Liran, Melamed Kadosh Dganit, Barnea Eilon, Admon Arie", "evidence": [ { "database": "IEDB", "id": "1554592", "url": "https://www.iedb.org/epitope/1554592" } ], "reference": [ { "type": "PubMed", "id": "34087483", "url": "https://glygen.org/publication/PubMed/34087483" } ] }, { "title": "Profiling SARS-CoV-2 HLA-I peptidome reveals T\u00a0cell epitopes from out-of-frame ORFs.", "journal": "Cell", "date": "2021-07-22", "authors": "Weingarten-Gabbay Shira, Klaeger Susan, Sarkizova Siranush, Pearlman Leah R, Chen Da-Yuan, Gallagher Kathleen M E, Bauer Matthew R, Taylor Hannah B, Dunn W Augustine, Tarr Christina, Sidney John, Rachimi Suzanna, Conway Hasahn L, Katsis Katelin, Wang Yuntong, Leistritz-Edwards Del, Durkin Melissa R, Tomkins-Tinch Christopher H, Finkel Yaara, Nachshon Aharon, Gentili Matteo, Rivera Keith D, Carulli Isabel P, Chea Vipheaviny A, Chandrashekar Abishek, Bozkus Cansu Cimen, Carrington Mary, , Bhardwaj Nina, Barouch Dan H, Sette Alessandro, Maus Marcela V, Rice Charles M, Clauser Karl R, Keskin Derin B, Pregibon Daniel C, Hacohen Nir, Carr Steven A, Abelin Jennifer G, Saeed Mohsan, Sabeti Pardis C", "evidence": [ { "database": "IEDB", "id": "1333975", "url": "https://www.iedb.org/epitope/1333975" }, { "database": "IEDB", "id": "1627367", "url": "https://www.iedb.org/epitope/1627367" } ], "reference": [ { "type": "PubMed", "id": "34171305", "url": "https://glygen.org/publication/PubMed/34171305" } ] }, { "title": "Immunopeptidogenomics: Harnessing RNA-Seq to Illuminate the Dark Immunopeptidome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Scull Katherine E, Pandey Kirti, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "1852594", "url": "https://www.iedb.org/epitope/1852594" } ], "reference": [ { "type": "PubMed", "id": "34509645", "url": "https://glygen.org/publication/PubMed/34509645" } ] }, { "title": "HLA Allele-Specific Quantitative Profiling of Type 1 Diabetic B Lymphocyte Immunopeptidome.", "journal": "Journal of proteome research", "date": "2022-01-07", "authors": "Sudhir Putty-Reddy, Lin Tai-Du, Zhang Qibin", "evidence": [ { "database": "IEDB", "id": "1857255", "url": "https://www.iedb.org/epitope/1857255" } ], "reference": [ { "type": "PubMed", "id": "34932366", "url": "https://glygen.org/publication/PubMed/34932366" } ] }, { "title": "Immunopeptidomic analysis of influenza A virus infected human tissues identifies internal proteins as a rich source of HLA ligands.", "journal": "PLoS pathogens", "date": "2022-01", "authors": "Nicholas Ben, Bailey Alistair, Staples Karl J, Wilkinson Tom, Elliott Tim, Skipp Paul", "evidence": [ { "database": "IEDB", "id": "877836", "url": "https://www.iedb.org/epitope/877836" }, { "database": "IEDB", "id": "878677", "url": "https://www.iedb.org/epitope/878677" }, { "database": "IEDB", "id": "987384", "url": "https://www.iedb.org/epitope/987384" }, { "database": "IEDB", "id": "1088278", "url": "https://www.iedb.org/epitope/1088278" }, { "database": "IEDB", "id": "1091878", "url": "https://www.iedb.org/epitope/1091878" }, { "database": "IEDB", "id": "1181438", "url": "https://www.iedb.org/epitope/1181438" }, { "database": "IEDB", "id": "1182845", "url": "https://www.iedb.org/epitope/1182845" }, { "database": "IEDB", "id": "1202210", "url": "https://www.iedb.org/epitope/1202210" }, { "database": "IEDB", "id": "1202211", "url": "https://www.iedb.org/epitope/1202211" }, { "database": "IEDB", "id": "1224108", "url": "https://www.iedb.org/epitope/1224108" }, { "database": "IEDB", "id": "1852594", "url": "https://www.iedb.org/epitope/1852594" }, { "database": "IEDB", "id": "2005074", "url": "https://www.iedb.org/epitope/2005074" }, { "database": "IEDB", "id": "2007004", "url": "https://www.iedb.org/epitope/2007004" }, { "database": "IEDB", "id": "2009071", "url": "https://www.iedb.org/epitope/2009071" }, { "database": "IEDB", "id": "2009072", "url": "https://www.iedb.org/epitope/2009072" }, { "database": "IEDB", "id": "2010074", "url": "https://www.iedb.org/epitope/2010074" }, { "database": "IEDB", "id": "2011224", "url": "https://www.iedb.org/epitope/2011224" }, { "database": "IEDB", "id": "2011248", "url": "https://www.iedb.org/epitope/2011248" }, { "database": "IEDB", "id": "2013272", "url": "https://www.iedb.org/epitope/2013272" }, { "database": "IEDB", "id": "2013456", "url": "https://www.iedb.org/epitope/2013456" }, { "database": "IEDB", "id": "2013872", "url": "https://www.iedb.org/epitope/2013872" }, { "database": "IEDB", "id": "2015707", "url": "https://www.iedb.org/epitope/2015707" }, { "database": "IEDB", "id": "2015840", "url": "https://www.iedb.org/epitope/2015840" }, { "database": "IEDB", "id": "2016652", "url": "https://www.iedb.org/epitope/2016652" }, { "database": "IEDB", "id": "2017649", "url": "https://www.iedb.org/epitope/2017649" }, { "database": "IEDB", "id": "2018005", "url": "https://www.iedb.org/epitope/2018005" }, { "database": "IEDB", "id": "2018281", "url": "https://www.iedb.org/epitope/2018281" }, { "database": "IEDB", "id": "2018282", "url": "https://www.iedb.org/epitope/2018282" }, { "database": "IEDB", "id": "2021714", "url": "https://www.iedb.org/epitope/2021714" }, { "database": "IEDB", "id": "2027218", "url": "https://www.iedb.org/epitope/2027218" }, { "database": "IEDB", "id": "2030813", "url": "https://www.iedb.org/epitope/2030813" }, { "database": "IEDB", "id": "2032585", "url": "https://www.iedb.org/epitope/2032585" }, { "database": "IEDB", "id": "2032969", "url": "https://www.iedb.org/epitope/2032969" }, { "database": "IEDB", "id": "2034846", "url": "https://www.iedb.org/epitope/2034846" }, { "database": "IEDB", "id": "2036492", "url": "https://www.iedb.org/epitope/2036492" }, { "database": "IEDB", "id": "2037710", "url": "https://www.iedb.org/epitope/2037710" }, { "database": "IEDB", "id": "2039819", "url": "https://www.iedb.org/epitope/2039819" }, { "database": "IEDB", "id": "2041435", "url": "https://www.iedb.org/epitope/2041435" }, { "database": "IEDB", "id": "2042213", "url": "https://www.iedb.org/epitope/2042213" }, { "database": "IEDB", "id": "2042744", "url": "https://www.iedb.org/epitope/2042744" }, { "database": "IEDB", "id": "2042846", "url": "https://www.iedb.org/epitope/2042846" }, { "database": "IEDB", "id": "2042902", "url": "https://www.iedb.org/epitope/2042902" }, { "database": "IEDB", "id": "2044214", "url": "https://www.iedb.org/epitope/2044214" }, { "database": "IEDB", "id": "2045034", "url": "https://www.iedb.org/epitope/2045034" }, { "database": "IEDB", "id": "2045110", "url": "https://www.iedb.org/epitope/2045110" }, { "database": "IEDB", "id": "2045177", "url": "https://www.iedb.org/epitope/2045177" }, { "database": "IEDB", "id": "2045929", "url": "https://www.iedb.org/epitope/2045929" }, { "database": "IEDB", "id": "2046572", "url": "https://www.iedb.org/epitope/2046572" }, { "database": "IEDB", "id": "2047176", "url": "https://www.iedb.org/epitope/2047176" }, { "database": "IEDB", "id": "2049332", "url": "https://www.iedb.org/epitope/2049332" }, { "database": "IEDB", "id": "2050194", "url": "https://www.iedb.org/epitope/2050194" }, { "database": "IEDB", "id": "2050482", "url": "https://www.iedb.org/epitope/2050482" }, { "database": "IEDB", "id": "2051745", "url": "https://www.iedb.org/epitope/2051745" }, { "database": "IEDB", "id": "2051809", "url": "https://www.iedb.org/epitope/2051809" }, { "database": "IEDB", "id": "2052352", "url": "https://www.iedb.org/epitope/2052352" }, { "database": "IEDB", "id": "2056408", "url": "https://www.iedb.org/epitope/2056408" }, { "database": "IEDB", "id": "2058169", "url": "https://www.iedb.org/epitope/2058169" }, { "database": "IEDB", "id": "2058437", "url": "https://www.iedb.org/epitope/2058437" } ], "reference": [ { "type": "PubMed", "id": "35051231", "url": "https://glygen.org/publication/PubMed/35051231" } ] }, { "title": "Soluble HLA peptidome of pleural effusions is a valuable source for tumor antigens.", "journal": "Journal for immunotherapy of cancer", "date": "2022-05", "authors": "Khazan-Kost Sofia, Cafri Gal, Melamed Kadosh Dganit, Mooshayef Navit, Chatterji Sumit, Dominissini Dan, Manor Sigal, Zisser Bracha, Broday Limor, Talalai Efrosiniia, Shemer Anat, Zadok Oranit, Ofek Efrat, Onn Amir, Admon Arie, Peled Michael", "evidence": [ { "database": "IEDB", "id": "877836", "url": "https://www.iedb.org/epitope/877836" }, { "database": "IEDB", "id": "941044", "url": "https://www.iedb.org/epitope/941044" }, { "database": "IEDB", "id": "1857255", "url": "https://www.iedb.org/epitope/1857255" }, { "database": "IEDB", "id": "2264043", "url": "https://www.iedb.org/epitope/2264043" } ], "reference": [ { "type": "PubMed", "id": "35580925", "url": "https://glygen.org/publication/PubMed/35580925" } ] }, { "title": "Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.", "journal": "Journal of pediatric endocrinology & metabolism : JPEM", "date": "2022-10-20", "authors": "Ivo Catarina Rodrigues, Fitas Ana Laura, Madureira In\u00eas, Diamantino Catarina, Gomes Susana, Gon\u00e7alves Jo\u00e3o, Lopes Lurdes", "evidence": [ { "database": "RefSeq", "id": "NP_061978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ], "reference": [ { "type": "PubMed", "id": "36259452", "url": "https://glygen.org/publication/PubMed/36259452" } ] }, { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Tenascins and osteopontin in biological response in cornea.", "journal": "The ocular surface", "date": "2023-07", "authors": "Sumioka Takayoshi, Matsumoto Ken-Ichi, Reinach Peter Sol, Saika Shizuya", "evidence": [ { "database": "RefSeq", "id": "NP_061978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ], "reference": [ { "type": "PubMed", "id": "37209968", "url": "https://glygen.org/publication/PubMed/37209968" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P22105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P22105" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P22105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P22105" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Aberrant methylation and expression of TNXB promote chondrocyte apoptosis and extracullar matrix degradation in hemophilic arthropathy via AKT signaling.", "journal": "eLife", "date": "2024-05-31", "authors": "Chen Jiali, Zeng Qinghe, Wang Xu, Xu Rui, Wang Weidong, Huang Yuliang, Sun Qi, Yuan Wenhua, Wang Pinger, Chen Di, Tong Peijian, Jin Hongting", "evidence": [ { "database": "RefSeq", "id": "NP_061978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061978" } ], "reference": [ { "type": "PubMed", "id": "38819423", "url": "https://glygen.org/publication/PubMed/38819423" } ] }, { "title": "Cartilage proteoglycan binding region and link protein. Radioimmunoassays and the detection of masked determinants in aggregates.", "journal": "The Biochemical journal", "date": "1983", "authors": "Ratcliffe A, Hardingham T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "6193777", "url": "https://glygen.org/publication/PubMed/6193777" } ] }, { "title": "Specific inhibition of type I and type II collagen fibrillogenesis by the small proteoglycan of tendon.", "journal": "The Biochemical journal", "date": "1984", "authors": "Vogel KG, Paulsson M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "6439184", "url": "https://glygen.org/publication/PubMed/6439184" } ] }, { "title": "Binding of tenascin-C to soluble fibronectin and matrix fibrils.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Chung CY, Zardi L, Erickson HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7499434", "url": "https://glygen.org/publication/PubMed/7499434" } ] }, { "title": "The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C.", "journal": "The Journal of cell biology", "date": "1994", "authors": "Matsumoto K, Saga Y, Ikemura T, Sakakura T, Chiquet-Ehrismann R", "evidence": [ { "database": "MatrixDB", "id": "GAG_1", "url": "https://matrixdb.univ-lyon1.fr/biomolecule/GAG_1" } ], "reference": [ { "type": "PubMed", "id": "7512972", "url": "https://glygen.org/publication/PubMed/7512972" } ] }, { "title": "Tenascin-R (J1 160/180 inhibits fibronectin-mediated cell adhesion--functional relatedness to tenascin-C.", "journal": "Journal of cell science", "date": "1994", "authors": "Pesheva P, Probstmeier R, Skubitz AP, McCarthy JB, Furcht LT, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7527058", "url": "https://glygen.org/publication/PubMed/7527058" } ] }, { "title": "Alpha v beta 1 is a receptor for vitronectin and fibrinogen, and acts with alpha 5 beta 1 to mediate spreading on fibronectin.", "journal": "Journal of cell science", "date": "1995", "authors": "Marshall JF, Rutherford DC, McCartney AC, Mitjans F, Goodman SL, Hart IR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7542669", "url": "https://glygen.org/publication/PubMed/7542669" } ] }, { "title": "The human integrin alpha 8 beta 1 functions as a receptor for tenascin, fibronectin, and vitronectin.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schnapp LM, Hatch N, Ramos DM, Klimanskaya IV, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7559467", "url": "https://glygen.org/publication/PubMed/7559467" } ] }, { "title": "The alpha v beta 5 integrin receptor regulates receptor-mediated endocytosis of vitronectin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Panetti TS, McKeown-Longo PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7685013", "url": "https://glygen.org/publication/PubMed/7685013" } ] }, { "title": "Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B.", "journal": "J. Cell Biol.", "date": "1993", "authors": "Bristow J, Tee M K, Gitelman S E, Mellon S H, Miller W L", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "reference": [ { "type": "PubMed", "id": "7686164", "url": "https://glygen.org/publication/PubMed/7686164" } ] }, { "title": "Endothelial cell attachment and spreading on human tenascin is mediated by alpha 2 beta 1 and alpha v beta 3 integrins.", "journal": "Journal of cell science", "date": "1993", "authors": "Sriramarao P, Mendler M, Bourdon MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7693733", "url": "https://glygen.org/publication/PubMed/7693733" } ] }, { "title": "Interaction of biglycan with type I collagen.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schonherr E, Witsch-Prehm P, Harrach B, Robenek H, Rauterberg J, Kresse H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7852349", "url": "https://glygen.org/publication/PubMed/7852349" } ] }, { "title": "The expression of functional link protein in a baculovirus system: analysis of mutants lacking the A, B and B' domains.", "journal": "The Biochemical journal", "date": "1994", "authors": "Grover J, Roughley PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8002934", "url": "https://glygen.org/publication/PubMed/8002934" } ] }, { "title": "Interaction of heparin cofactor II with biglycan and decorin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Whinna HC, Choi HU, Rosenberg LC, Church FC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8440685", "url": "https://glygen.org/publication/PubMed/8440685" } ] }, { "title": "Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X.", "journal": "Genomics", "date": "1995", "authors": "Tee MK, Thomson AA, Bristow J, Miller WL", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "reference": [ { "type": "PubMed", "id": "8530023", "url": "https://glygen.org/publication/PubMed/8530023" } ] }, { "title": "Differential effects of the integrins alpha9beta1, alphavbeta3, and alphavbeta6 on cell proliferative responses to tenascin. Roles of the beta subunit extracellular and cytoplasmic domains.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Yokosaki Y, Monis H, Chen J, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8798654", "url": "https://glygen.org/publication/PubMed/8798654" } ] }, { "title": "Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes.", "journal": "Hum. Mol. Genet.", "date": "1996", "authors": "Speek M, Barry F, Miller WL", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "reference": [ { "type": "PubMed", "id": "8923003", "url": "https://glygen.org/publication/PubMed/8923003" } ] }, { "title": "Interaction of cartilage matrix protein with aggrecan. Increased covalent cross-linking with tissue maturation.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Hauser N, Paulsson M, Heinegard D, Morgelin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8943283", "url": "https://glygen.org/publication/PubMed/8943283" } ] }, { "title": "Localization of a binding site for the proteoglycan decorin on collagen XIV (undulin).", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Ehnis T, Dieterich W, Bauer M, Kresse H, Schuppan D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9252349", "url": "https://glygen.org/publication/PubMed/9252349" } ] }, { "title": "The C-type lectin domains of lecticans, a family of aggregating chondroitin sulfate proteoglycans, bind tenascin-R by protein-protein interactions independent of carbohydrate moiety.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Aspberg A, Miura R, Bourdoulous S, Shimonaka M, Heinegard D, Schachner M, Ruoslahti E, Yamaguchi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9294172", "url": "https://glygen.org/publication/PubMed/9294172" } ] }, { "title": "Mapping of a defined neurocan binding site to distinct domains of tenascin-C.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Rauch U, Clement A, Retzler C, Frohlich L, Fassler R, Gohring W, Faissner A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9341124", "url": "https://glygen.org/publication/PubMed/9341124" } ] }, { "title": "Identification of hyaluronan-binding domains of aggrecan.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Watanabe H, Cheung SC, Itano N, Kimata K, Yamada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9346959", "url": "https://glygen.org/publication/PubMed/9346959" } ] }, { "title": "Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Rosenberg K, Olsson H, Morgelin M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9685393", "url": "https://glygen.org/publication/PubMed/9685393" } ] }, { "title": "Tenascin-C inhibits beta1 integrin-dependent cell adhesion and neurite outgrowth on fibronectin by a disialoganglioside-mediated signaling mechanism.", "journal": "Glycobiology", "date": "1999", "authors": "Probstmeier R, Pesheva P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9949188", "url": "https://glygen.org/publication/PubMed/9949188" } ] } ], "pathway": [ { "id": "hsa:7148", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:7148", "resource": "KEGG Pathway" }, { "id": "R-HSA-3000178", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178", "resource": "Reactome", "description": "ECM proteoglycans" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A5F8MPH8-1", "protein_name": "Tenascin XB", "gene_name": "Tnxb", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAQCTPSILTILVLLGLARAGPFSPRSNVTLPAPRPPPKPGGPSSQLYEHTVEGGEKQVVFTHRINLPPSAGCGCPPGSEPPVPASEVQALRVRLEILEELVKGLKEHCTGGCCPTAAQAGTGQTDVRSLCSLHGVFDLSRCACSCEPGWGGPTCSDPTDTKTPTSSPPSKSCPEDCNDQGRCVRGRCVCFPGYSGPSCSWPSCPGDCQGRGRCVKGVCVCRAGFSGPDCSQRSCPRNCNQRGRCEEGRCVCDPGYSGEDCGVRSCPRGCSQRGRCENGLCVCNPGYSGEDCGVRNCPRGCSQRGRCEDGRCVCDPGYSGEDCSMRTCPWDCGDGGRCVDGRCVCWPGYSGEDCSTRTCPRDCRGRGRCEDGECICDAGYSGDDCGVRSCPGDCNQRGHCEDGRCVCWPGYTGADCSTRACPRDCRGRGRCEDGVCVCHAGYSGEDCGVRSCPGDCRGRGNCESGRCVCWPGYTGRDCGTRACPGDCRGRGRCVDGRCVCNPGFTGEDCGSRRCPGDCRGHGHCENGVCVCAVGYSGDDCSTRSCPSDCRGRGQCLNGLCECDEGYSGEDCGIRRCPRDCSQHGVCQDGLCMCHAGYAGEDCSIRTCPADCRRRGRCEDGRCVCNPGYTGPACATRTCPADCRGRGRCVQGVCMCYVGYSGEDCGQEEPPASACPGGCGPRELCRAGQCVCVEGFRGPDCAIQTCPGDCRSRGECIQGRCVCQEGYAGDDCGEEIPAIQNMRMHLLEETTVRTEWTRAPGPVDAYEIQFIPMTEGVSPPFTARVPSSASAYDQRGLAPGQDYQVTVRALRGTSWGPPASKTITTMIDGPQDLRVVAVTPTTLDLSWLRPQAEVDRFVVSYVSAGNQRVRLEVPPEADRTQLTDLMPGVEYVVTVTAERGHAVSYPASIRANTAPGHYSYPEVRPPAPPPNPRPRPRWPSRPLPSPETDEKEWHLRPRLPQPPRRPWGNLTTELSRFRGTVQDLEHHLRTHGYPLRANQTYASVARYIHEFLKRHQTAGAPASQPRHPHPTTSPTQNTRKRDSEQGAVGPASDGAHPVTTARHPKPEVLGSAADGSLIVSLDGLRGQFERVVLRWRPLLPAKGPSGELTVDGSERTVRLPNLRPGTTYHVEVHGVRAGQTSKSYAFITTTTTTTTGSLPSGLLEATDEPPPSGPSTTQGAQAPILILEHHPLGELKVLGRDKAGRLSVAWTAQPDSFAHFQLRMQVAEGPWAHEELLPGDVQQALVPPPPPGAPYKLFLHGITPGGKISVPITYQGIMDRAQEQPGKPSVQPRLGELTVTGLTSDSLLLHWTVPEGEFDSFLIQYKDKDGPQAISVEGPQRSTPISGLEPGRKYKFILYGLIGKKRHGPLMAEAKILIQSDPDPGSPPRLGELWVTDPTPHSLHLSWTVLGGQFDSFVVQYRDKEGQPRVVPVEGPDRSVVISPLDPNRKYRFTLFGIANKKRYGPLTADGTTAAETKEESSEPPRLGELTVTGVTPDSLRLSWTVARGPFDSFVILYKDAQGQPQSVPIEGDENEVTVPGLESNRKYKMNLYGLRGRQRVGPVSVVAKTAPPDVVDQPLSPPEPSTEAPEPPEKPLLRELIVTDTTPNSLSLSWTVSEGQFDQFVIQYKNGDGQPKVVRVPGHEDQVTISGLEPDHKYKMNLYGIHSGQRVGPVSVVGVTAAEEEPPSPTEPSTEAPEPTEEPLLGELTVTGSSPDSLSLSWTVPQGDFDSFTVQYKSSDGRPQVMRVGGQEREVIVRDLDPGHKYKMNLYGLHEGHRVGPVSTVGTTDKQPEEKPPLEPRLEELTVTGVTPNSVSLSWIVPEGQFDSFVVQYQDRDGQPREVPLTAEQREVTVLDLDPARIYKMNFYGLHGRRRVGPLSVSAMTAPAPATEASKLLPEPRLGELTVTDVTPDSVGLLWTVPEGEFDSFTVQYKDRDGQPHVVSVAADLREVTIPGLEPSRKYKFLLFGVQDGKRRSQVSVEAKTATHDDTSPGAPPRLGELWVTDPTTDSLRLSWTVPEGHFDSFVVQFKDKSGPRVVPVKGQERTATITALDAGRKYRFLLYGLLGRKRFGPLTAEGITEPTNAADHTKSRLGEELRVTGVTQNSVDLSWTVSEGQFDSFVVQYKDRDGQSQVVPVDGSHREVRVSGLDPGRRYKLLLYGLRDSKRVGPLSVIAVTDPRETTEAWTEVPTTSTPAAVPRLGELRVEEATPHSLHLSWVVTEGEFNSFEVQYTDRDGQLRVASTEGDQTDITLTGLESNHRYLITLYGFHDGQPVGSAQIEALTVPWEEEEEEEESTEPPTMTPEPRPQLGELTVTDATPDSLSLSWTVPEGQFDQFVIQYKNGDGQPKVVRVPGHEDQVTISGLEPDHKYKLNLYGIHSGQRFGPVSTVGVTAAVEEPPSPTEPSTEAPEPTEEPLLGELTVTGSSPDSLSLSWTVPQGDFDSFTVQYKDSDGRPQVMRVGGQEREVIVRDLDPGRKYKMNLYGLHEGRRVGPVSTVGVTDPKEEPTDASSLKPRLEELTVTDATPDSLSLSWTVPEGQFDQFVIQYKNGDGQPKVVRVPGHEDQVTISGLEPDHKYKMNLYGIYSGQRVGPVSAVGVTAAEEEPPSPTEPRTEAPEPTEAPEPTEEPRLGELTVTGSSPDSLSLSWTIPKGDFDSFTVQYKDSDGRPQVIRVRGQEREVIVRDLDPGRKYKMNLYGLHEGRRVGPVSTIGVTAPEEEALTTQAVPTTTPEPPPKKPHLGELTVTDATPDSLSLSWTVPEEQFDQFVIQYKNGDGQPKVVRVPGHEDQVTISGLEPDHKYKMNLYGIYSGQRVGPVSVVGVTAAEEEPPSPEPSTEAPEPTEAPEPTEEPLLGELTVTGSSPDSLILSWTIPKGDFDSFTVQYKDSDGRPQVMRVGGQEREVIVRDLDPGRKYKMNLYGLHEGRRVGPVSTVGVTEEEATTTQAEPIVTTEPPPKKPHLGVLTVTDATPDSLSLSWTVPEAHFDQFVIQYKNGDGQPKVVRVPGHEDQVTISGLEPDHKYKMNLYGIYSGQRVGPVSAVGVTAAEEEPPSPTEPSTEAPESTEEPLLGELTVTGSSPDSLSLSWTVPQGEFDSFTVQYKDSDGRPQVMRVGGQEREVIVRDLDPGRKYKMNLYGLHEGRRVGPVSTVGMTEKEALTTQVVPTTTPEPPPKKPHLGELTVTDATSDSLSLSWTVPEGQFEQFVIQYKNGDGQPKVVRVPGHEDQVTISGLEPDHKYKMNLYGIHSGQRFGPVSTVGVTTAVEEPPSPTEPSIEAPEPTEEPLLGELTVTGSSPDSLSLSWTVPQGDFDSFTVQYKDSDGRPQVMRVGGQEREVIVRDLDPGRKYKMNLYGLHEGRRVGPVSTVGVTASLTTEPPIEPRLGELAAVEVTSSTVHLSWTVAQGPFDSFLVQYKDTQGQPQMVPVSGDLGEVTVSGLEPARKYKFLLFGLKDGKRHGPVSTEAKTVSDAKLLPRLGELTVTDTTQNSVGLSWTVPEGEFDSFLVQYKNRGGQVQVVPAAADQREVTISSLEPNRKYRFLLFGLIGLKRLGPVSVEGTTAPVEKTPQPRLGELSVTEETSDSMHLSWSVAQGPFDSFLVQYKDRDGQLQTVSLAADQREVTIEGLQPGRKYKFLLYGLTGGKRLGPISALGVTASEVDISAPDHTEPPHAPGLGTLAVTEATPDSLRLSWAVARGPFDSFVVQYQDTENETQALLVDGDQDKVLISGLEPKTSYKFFLYGLREGTRHGPVSVEGTTDPVPAGQGPGDPGPRLSQLSVSDVTTSSLRLNWEAPLGAFDSFLLRFGVPLLSTLEQNPRTLQQRELMVPGVRRSAMLRDLRPGTLYSLTLYGLRGPHKADSIQGTARTLSPVLESPRDLQFSDIGETSAKVKWVPPTSRVDSFKISYQLADGGEPQSVQVDGRTQTQILQGLIPDTRYEVTVVSVRGFEESEPLTGFLTTVPDGPTQLRALNLTDGSALLHWKPPHKPVDKYDVEVESPGAPPLQASAPGSAVDYPLTDLALDTNYTATVRGLRGPNFTSPASITFTTGLKPPQDLEAKEVTPRTALLTWTEPEVPPTGYLLSFDTPGGQIQEILLPAGTTSHRLLRLFPSTFYSAQLRAIWGESLTPPVLTSFTTGGLRIPFPRDCGEELKNGPSASKTTTIFLNGNRERPLDVFCDMETDGGGWLVFQRRMDGQTDFWRDWEEYAHGFGNISGEFWLGNEALHSLTQAGDYSLRVDLRAGKEAVFAQYDFFRVDSAKENYRLHLEGYHGTAGDSMSYHSGSVFSARDRDPNNLLISCAVSYRGAWWYRNCHYANLNGLYGSTVDHQGVSWYHWKGFEFSVPFTEMKLRPRNFQVPTRGT", "length": 4356 }, "evidence": [ { "id": "MGI:1932137", "url": "https://alliancegenome.org/gene/MGI:1932137#orthology", "database": "AGR" }, { "id": "HGNC:11976", "url": "https://alliancegenome.org/gene/HGNC:11976#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070103-5", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070103-5#orthology", "database": "AGR" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "A0A8I6AJ44-1", "protein_name": "Tenascin XB", "gene_name": "Tnxb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAQCTPSILTVLVLLGTARGGPFSPRSNVTLPVPRPPPQPGGPSSQLYEHTVEGGEKQVVFTHRINLPPSAGCGCPPGSEPPVPASEVQALRVRLEILEELVKGLKEHCSGGCCPTAAQAGTGQTDVRSLCSLHGVFDLSRCACSCEPGWGGPTCSDPTDTKTPTSAPPSASKACPEDCNDQGRCVRGRCVCFPGYSGPSCGWPSCPGDCQGRGRCVQGVCVCRAGFSGPDCSQRSCPRNCNQRGRCEEGRCVCDPGYSGEDCGVRSCPRGCSQRGRCENGRCVCNPGYSGEDCGVRSCPRGCSQRGRCEDGRCVCDPGYSGEDCSVRSCPWDCGDGGRCVDGRCVCWPGYSGEDCSTRTCPRDCRGRGRCEDGECICDPGYSGDDCGVRSCPGDCNQRGHCEDGRCVCWPGYTGADCSTRACPRDCRGRGRCENGVCVCHAGYSGEDCGVRSCPGDCRGRGSCESGRCVCWPGYTGRDCGMRACPGDCRGRGRCVDGRCVCNPGFTGEDCGSRRCPGDCRGHGHCEDGVCVCAVGYSGDDCSTRSCPSGCRGRGRCLDGLCVCDEGYSGEDCSVRLCPRDCSQHGVCQDGLCVCHAGYAGEDCSIRTCPADCHRRGRCEDGRCVCNPGYTGPACATRTCPADCRGRGRCVQGVCVCYAGYSGEDCGQEEPPASACPGGCGPRELCRAGQCVCVEGFRGPDCAIQTCPGDCRGRGECVQGTCVCQDGYAGDDCGEEIPAIQNMRMHLLEETTVRTEWTRVPGPVDAYEIQFIPMTEGVSPPFTARVPSSASAYDQRGLAPGQDYQVTVRALRGTSWGPPTSKTITTMIDGPQDLQVVAVTPTTLDLSWLRPQAEVDRFVVSYVSAGNQRVRLEVPPEADRTQLTDLMPGVEYVVTVTAERGHAVSYPASVRANTAPGHYSYPEVRPPVPPPNPRPRPPRPSRPLLPPEGGEKEWHLRPSLPQPPRRPWGNLTAELGRFRGTVQDLERHLRTHGYPLRANQTYASVARHIHEFLKRHQTAGAPASQPRHPHPTTSPTQSTRKRDSDQGAVGPASYGAHPVTATRHPKPEVLGSAADGSLIVSLDGLRGQFERVVLRWRPLPPAKGPSGELTVDGSERTVRLPNLRPGTTYHVEVHGVRAGQTSKSYAFITTTATTTGSLPSGLLEATDEPPPSGPSTTQGAQAPILILEHHPLGELKVLGRDKAGRLRVAWTAQPDSFAHFQLRMQVAEGPWAHEELLPGHVHQALVPPPPPGSPYKLFLQGITPGGEPSVPITYQGIMDRAEVQPGKSSVLPRLGELTVTGLTSDSLLLHWTVPEGEFDSFLIQYKDKDGPRAIPVEGPQRSAPVTALEPGRKYKFILYGLIGKKRHGPLIAEAKILLQSDPDSGSPPRLGELWVTDPTPHSLHLSWTVLGGQFDSFMVQYRDKEGQPHVVPVEGPERSVVISPLDPNHKYRFTLFGVANKKRYGPLTADGTTASEPKEESSEPPRLGELTVTGVTPDSLRLSWTVARGPFDSFVILYKDAQGQPQSVPIEGDENEVTVPGLESNRKYKMNLYGLRGRQRVGPVSVVAKTAPPEIVDQTSSPTEPSTQAPEPPKKPLLGELTVTDTTPNSLSLSWTVPEGQFDQFVIQYKNGDGQPKVVRVPGYEDQVTISGLEPDHKYKMNLYGIHSGQRVGPVSVTGVTDAEEEPPSPTELSIEAPEPTETPEPTEEEEPLLGELTVTGSSPDSLSLSWTVPQGHFDSFTVQYKDSNGRPQVMRVGGQEREAIVRDLDPGRKYKMNLYGFHEGRRVGPVSTVGVTDPQPEEKTPREPHLEELAVTGVTPNSVSLSWVVPEGQFDSFVVQYQDGDGQPQEVPVTAEQREVTILDLDPERVYKMNLYGLYGRQRVGPLSVSAVTDPLPEAPAPVTEASKLVPEPRLGELAVTDVTPDSVGLLWTVPEGEFDSFMVQYKDRDGQPHVESVAADLREVTVPGLEPSRKYKFLLFGVRDGKRHSQVSVEAKTAAREDTSPEAPPRLGELWVTEPTTDSLRLSWTVPEGHFDSFVVQFKDKSGPRVVPVNGQELTTTITALDAGRKYRFLLYGLLGKKRFGPLTAEGNTESMNAVDHTREKHPTKPRLGEELRVTSVTQNSVDLSWTVSEGQFDSFVVQYKNRDGQSQVVPVDGSHREVRVSGLDPGRRYKLLLYGLRDGKRVGPLSVIAVTDPRETTEAWTEVPTTSTPATVPRLGELRVEEATPHSLHLSWVVSEGEFNSFEVQYTDRDGQLRVVSTEGDQSDITLTGLDSDHRYLITLYGFHDGQRVGPAQIEALTVPREEEEDEEEEPTESPTTTPEPKPRLGELTVTDTTPNSLSLSWTVPEGQFDQFVIQYKNGDGQPKVVRVPGYEDQVTISGLEPDHKYKMNLYGIHSGQRVGPVSTVGVTAAEEELPSPTEPSTEAPEPTEEEEPLLGELTVTGSSPDSLSLSWTVPQGHFDSFTVQYKDSNGRPQVVRVGGQEREAIVRDLDPGRKYKMNLYGFHEGHRVGPVSTVGVTNPEEEPTDAPSPKPRLGELTVTDATPDSLSLSWTVPEGQFDQFVIQYKNGDGQPKVVRVPGYEDQVTISGLEPDHKYKMNLYGIHSGQRVGPVSVTGVTAADEEPPSPEPSTEAPEPTEAPEPTEEEPLLGELTVTGSSPDSLSLSWTVPQGHFDSFTVQYKDSNGRPQVVRVGGQEREAIVRDLDPGRKYKMNLYGFYEGSRVGPVSTVGVTDSEEEAPTTQAVPTTTPEPPPKKPLLGELTVTDATPDSLSLSWTVPEGQFDQFVIQYKNGDGQPKVVRVPGYEDQVTISGLEPDHKYKMNLYGIHSGQRVGPVSVTGVTAAEEEPPSPTEPSTEAPEPTEAPEPTEEELLLGELTVTGTSPDSLSLSWTVPQGHFDSFTVQYKDSSGRPQVMRIGGQEREAIVTDLDPGRKYKMNLYGFHEGRRVGPVSTVGVTEEEAMTTQAVPTVTTEPPPEKPRLGELTVTDATPDSLSLSWTVPEGQFDQFVIQYKNGDGQPKVVQVPGYEDQVTISGLEPDHKYKMNLYGIHSGQRVGPMSVTGVTAAEEEPLSPTEPSTEAPEPTEEEEPLLGELTVTGSSPDSLSLSWTVPQGHFDSFTVQYKDSNGRPQVVHVGGQEREAIVRDLDPGRKYKMNLYGFHEGRRVGPVSTVGVTAPEEEAPTTQAVPTTTPEPPPKKPLLGELTVTDATPDSLSLSWTVPEGQFDQFVIQYKNGDGQPKVVRVPGYEDQVTISGLEPDHKYKMNLYGIHSGQRVGPVSVIGVTAAEEEPPSPTEPSTEAPEPTEEEPLLGELTVTGSSPDSLSLSWTVPQGDFDSFTVQYKDSSGRPQVVRVGGQEREAIVRDLDPGRKYKMNLYGIHSGQRVGPVSAVGVTAAEEEPPSPTEPSTEAPEPTEAPEPTEEEEPLLGELTVTGSSPDSLSLSWTVPQGDFDSFTVQYKDSSGRPQVVRVGSQEREAIVTDLDPGRKYKMNLYGFHEGRRVGPVSTVGVTASLTTEPPIQPRLGELAAVEVTPSAVHLSWTVAQGPFDSFLVQYRDAQGQPQMVPVSGDLSEVTVSGLEPSRKYKFLLFGLLGGKRHGPVSTEAKTAALEKTPQPRLGELSVAGETSDSVHLSWTVVQGPFDSFLVQYKDKDGQLQTVPVAADQQEVTIEGLQPGRKYKFLLFGLTGEKRLGPISALGVTASEVDTSTPNPTEHPETPHLGTLAVTEATPNSLRLSWGVARGPFDSFVVQYQDTEGQPQALLVDGNQDKVLISDLKPSTSYKFFLYGLSQGTRHGPVSAEGTTDPVPAGQGPGDPGPRLSQLSVSDVTTSSLRLNWEAPLGSFDSFLLRFGVPLPSTLEPHPRPLLQRELMVPGTRRSAVLRDLRPGTLYSLTLYGLRGPHKADSIQTTARTLSPVLESPRDLQFSDIGETSAKVTWVPPSSRVDSFKISYQLADGGEPQSVQVDGRTHTQILQGLIPDTRYEVTVVSVRGFEESEPLTGFLTTVPDGPTQLRALNLTDRSALLHWKPPHKPVDKYNVQVASPGAPPLQASAPGSAVDYPLTDLSLDTNYTATVRGLRGPNFTSPASINFTTGLKPPQDLEAKEVTPRTALLTWTAPKVPPTGYLLSFDTPGGQIQEILLPAGTTSHRLLRLFPSTFYSAQLRAIWGESLTPPVSTSFTTGGLRIPFPRDCGEELKNGASASKTTTIFLNGNRERPLDVFCDMQTDGGGWLVFQRRMDGQTDFWRDWEEYAHGFGNISREFWLGNEALHSLTQAGDYSMRVDLRAGKEAVFAQYDFFRVDSAKENYRLHLGGYHGTAGKCGSGWGGGRHEGDPHHAVPRPAGDSMSYHSGSVFSARDRDPNNLLISCAVSYRGAWWYKNCHYANLNGLYGSTVDHQGVSWYHWKGFEFSVPFTEMKLRPRNFQAPTRGT", "length": 4433 }, "evidence": [ { "id": "HGNC:11976", "url": "https://alliancegenome.org/gene/HGNC:11976#orthology", "database": "AGR" }, { "id": "RGD:1594402", "url": "https://alliancegenome.org/gene/RGD:1594402#orthology", "database": "AGR" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "A0A8M9P891-1", "protein_name": "Uncharacterized protein tnxba isoform X1", "gene_name": "tnxba", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MNKLGTSTQYKMLISLVFLILNVSFLQGTLSENKNDTIKTIDHTFSHHIPVQVTTPLSTKVKKQTHAASSKMSNSNQTLPFTPKPVVDDIQKSVPLFQDTLSAKDNSTSESRLNAHNVHKPLTRLSNTKIRNQTQSTSSISSSISQTLPSSTEPAVDGVQKPVLALRGKLNEKKHSTVQSTAHLGSLDIPKLVTTKLINKMKNQTRPTLAKPSSVNQTLPSVKKIVADQSTITEKKNSTANLPTQIISVPKTDKKTKNHTQSTFSITSNINQHQDIVEKHPPSLQDPHSQKKNSTMKSPTQTIKVVTTSLNSKKKDQTQSTSLTYSKVNQSLSSSTKPNIHTSQKPMQGVQNKISEKTNSTNKSTVSNVNVQKPATKLNTKLKVQTQYTSSTKTQVNQILTTSTRPEVDSIQNPVQSVQNTISGKKNSTTKSTVNTINVQKPVTSLLKTKLKEQTQSSSSTSQLNQTLTTSQKPGVDSIHKPVQSLQITFGGKTNSTTKSIVNIVDVQKPATKLNTKMKVQTQSTSLTTTQVNLTLPSSTMPEVDSVQKPVQSVQNTISGKKNSTTKSTVNTSNVQKPVTSLLKTKLKEQTQSTPSTSQVKQTLTTSSKPEVDTTQKPVQSVQNTIGDKKNSTTESIVNTINVQNPATRLNTKLKDQTQSTSSTTSKVNHTLPSSTMPDVDTVKKPIQSLQNKIGDKKNSTTKSTVNTINIQKPVTSLLKTKLKEQTQSTPSTSQVNQTLTTSTKPEVNSIQNPVQSVQNTVSDKNNSTTKSTVNTIKVQKPVTSLLKTKLKEKTQSTPSTSQVNQTHTTSTKPEVESIQNPVQSVQDTISGKKNSTTKSTVNTINVQKPVTSLLKTKLKEQTQSTPSTSQVNQTLTSSIKPEVDSIQKPVQSAKNTIGDQTNSTTKSTVNIINVKKPVTTLLKNKQKERTQSISSTTSQVNQTLPASTKSDVDSIQKPVQSVQTTINDKKNSTTKSTDNHIIVQKPVGTLLKNKMRIQALSNSTKNSIIDQTSLSAKPAVDVVQKSVSPSPTTFGEKRNTTTKLVSHNINVNASKPENTKVQTQSVSSKPTHINQTLLSTPKPAVDVKTPGSALQDISGTKKNSTSKLTAQTIRNNVPTLTTLLNIKLKNQTHPSFSTISHVNQTVPFSTKFVDEVTHRMKKNSTVKARLQTININASKPVTTSLHTKTKNQTQSTSLKISKANQTSPSTTKPVEGEISLGKKKNFTVKSASQSIDVHASKPITTPPNTKTKNQTKPSSSKNNNNDQAVTSTSPVMDGTQNLDIDKLAESSPIKIVITEGCVQRKSQGDVGNITKIRETELSLNPGSPLVMTHRINLVQGTCNGGCETDMAALRERIELLEKEMSAIKQMCVPCSGEQCPKNCSGQGKCEEGKCVCFQGFSGPDCSSKACPSNCNKKGKCVKGKCVCQTGFTGIGCSKAIDERITVTVETVTMKMSSAMPDTKTVKTRPDKAILVKETVTKVPKKHTTAKPTVKPSPTASTDKVLSHTTGKDNIKIVGQQSESMKLQEQTKGKTTVIKMGSDNQAQTDLSDKSHNAKDEPAYQNVTQRSVKKSNGTSKILHNLFKGSMNVTRSKTKITTRTAGDQGEESKTNAVSAEKDEKLFHGNVTTVQAEKKSDKPEIDASVESKAHMKHFSKTSSRLSVIGSVEVHNITSTGFIMSWEAHRDKFKNFTVTRREIKAGNEDSEKIHEAIENVTDAERLGSNRTLTKILSSKSEGNAMKKFSQILAGTTRSYHFKGLQPQTQYAISLFGSGPGMRSKIHRITLSTGPEPPTDLVFSNITETSFSLSWAKPKSIVAEFKVKYINTVTGESGSMSVDSQLSHVLLSKLTAGTTYDITVSSVLDKLESEPVIASITTVPDSPTELKVVNITDTKALLVWKPSKAKVDSYILSYGTTKSPNVTITVTLSGSSVEHQLRALHRSSLYMVKMTSQVNRLQSSSVSTSFTTGSGVKLQVVTPDEVTFHSAVISWKAPRVAFKSYRLTYQLSEEVKELILNPSVTHYELTGLAAFSNYTVKIDGERDGQYISFVSSDFTTAQLPHPYPTDCSEVQINGMKESGEAEIYPEGKNGEPVRVYCDMETDGGAWTVFQRRMDGSTDFFRSWRDYSKGFGLLSGEFWLGNDVLHTLTSLKAMSLRIDLRSGNDTAFAQYINFNISSEANHYAIDLSGYSGTAGDSMKYHKGRPFSTKDKDPDTLSIHCAKAYMGGWWYKNCYKANLNGLYASYSDNKGVVWIDWKGKDASLPFTEMKLRPSNFSQTTSTTPTAQS", "length": 2285 }, "evidence": [ { "id": "MGI:1932137", "url": "https://alliancegenome.org/gene/MGI:1932137#orthology", "database": "AGR" }, { "id": "HGNC:11976", "url": "https://alliancegenome.org/gene/HGNC:11976#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-070103-5", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-070103-5#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "Q16473-1", "protein_name": "Putative tenascin-XA", "gene_name": "TNXA", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MEDKNGAPHGAPHSDSPLGFSHAAPEEDTPAPELAPEAPEPPEEPRLGVLTVTDTTPDSMRLSWSVAQGPFDSFVVQYEDTNGQPQALLVDGDQSKILISGLEPSTPYRFLLYGLHEGKRLGPLSAEGTTGLAPAGQTSEESRPRLSQLSVTDVTTSSLRLNWEAPPGAFDSFLLRFGVPSPSTLEPHPRPLLQRELMVPGTRHSAVLRDLRSGTLYSLTLYGLRGPHKADSIQGTARTLSPVLESPRDLQFSEIRETSAKVNWMPPPSRADSFKVSYQLADGGEPQSVQVDGRARTQKLQFLTVPHSCVH", "length": 311 }, "evidence": [ { "id": "MGI:1932137", "url": "https://alliancegenome.org/gene/MGI:1932137#orthology", "database": "AGR" } ], "glygen_name": "Human", "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "collagen fibril binding", "id": "GO:0098633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098633", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "elastic fiber assembly", "id": "GO:0048251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048251", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "positive regulation of collagen fibril organization", "id": "GO:1904028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904028", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "collagen metabolic process", "id": "GO:0032963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032963", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" }, { "name": "positive regulation of cell fate determination", "id": "GO:1905935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905935", "evidence": [ { "database": "UniProtKB", "id": "P22105", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "tenascin-X O-glycosylated 1 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Ser-178 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Ser-178, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056146", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056146" } ] }, { "name": "tenascin-X O-glycosylated 2 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Ser-178 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P22105-3, Ser-178, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056147", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056147" } ] }, { "name": "tenascin-X O-glycosylated 3 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Ser-2292 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P22105-3, Ser-2292, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056148", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056148" } ] }, { "name": "tenascin-X O-glycosylated 4 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Ser-2943 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P22105-3, Ser-2943, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056149", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056149" } ] }, { "name": "tenascin-X O-glycosylated 5 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Ser-3923 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Ser-3923, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056150", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056150" } ] }, { "name": "tenascin-X O-glycosylated 6 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Ser-54 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Ser-54, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056151", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056151" } ] }, { "name": "tenascin-X O-glycosylated 7 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Ser-943 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Ser-943, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056152", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056152" } ] }, { "name": "tenascin-X O-glycosylated 8 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Ser-946 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P22105-3, Ser-946, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056153", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056153" } ] }, { "name": "tenascin-X O-glycosylated 9 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Ser-946 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G73004SD. Example: UniProtKB:P22105-3, Ser-946, MOD:00002~GNO:G73004SD. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056154", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056154" } ] }, { "name": "tenascin-X O-glycosylated 10 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-1180 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-1180, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056155", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056155" } ] }, { "name": "tenascin-X O-glycosylated 11 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-1364 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-1364, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056156", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056156" } ] }, { "name": "tenascin-X O-glycosylated 12 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-1469 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P22105-3, Thr-1469, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056157", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056157" } ] }, { "name": "tenascin-X O-glycosylated 13 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-1469 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-1469, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056158", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056158" } ] }, { "name": "tenascin-X O-glycosylated 14 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-1569 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P22105-3, Thr-1569, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056159", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056159" } ] }, { "name": "tenascin-X O-glycosylated 15 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-1569 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-1569, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056160", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056160" } ] }, { "name": "tenascin-X O-glycosylated 16 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-1872 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P22105-3, Thr-1872, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056161", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056161" } ] }, { "name": "tenascin-X O-glycosylated 17 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-1873 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-1873, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056162", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056162" } ] }, { "name": "tenascin-X O-glycosylated 18 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-1876 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-1876, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056163", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056163" } ] }, { "name": "tenascin-X O-glycosylated 19 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2083 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-2083, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056164", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056164" } ] }, { "name": "tenascin-X O-glycosylated 20 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2324 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P22105-3, Thr-2324, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056165", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056165" } ] }, { "name": "tenascin-X O-glycosylated 21 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2324 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-2324, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056166", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056166" } ] }, { "name": "tenascin-X O-glycosylated 22 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2357 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-2357, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056167", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056167" } ] }, { "name": "tenascin-X O-glycosylated 23 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2399 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-2399, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056168", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056168" } ] }, { "name": "tenascin-X O-glycosylated 24 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2514 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-2514, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056169", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056169" } ] }, { "name": "tenascin-X O-glycosylated 25 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2649 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-2649, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056170", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056170" } ] }, { "name": "tenascin-X O-glycosylated 26 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2837 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P22105-3, Thr-2837, MOD:00005~GNO:G58001LT. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056171", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056171" } ] }, { "name": "tenascin-X O-glycosylated 27 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2838 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P22105-3, Thr-2838, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056172", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056172" } ] }, { "name": "tenascin-X O-glycosylated 28 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2838 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-2838, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056173", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056173" } ] }, { "name": "tenascin-X O-glycosylated 29 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-2944 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-2944, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056174", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056174" } ] }, { "name": "tenascin-X O-glycosylated 30 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-3052 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-3052, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056175", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056175" } ] }, { "name": "tenascin-X O-glycosylated 31 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-3054 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P22105-3, Thr-3054, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056176", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056176" } ] }, { "name": "tenascin-X O-glycosylated 32 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-3054 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-3054, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056177", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056177" } ] }, { "name": "tenascin-X O-glycosylated 33 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-3158 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-3158, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056178", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056178" } ] }, { "name": "tenascin-X O-glycosylated 34 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-3257 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-3257, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056179", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056179" } ] }, { "name": "tenascin-X O-glycosylated 35 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-3541 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P22105-3, Thr-3541, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056180", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056180" } ] }, { "name": "tenascin-X O-glycosylated 36 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-3541 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-3541, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056181", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056181" } ] }, { "name": "tenascin-X O-glycosylated 37 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-3880 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-3880, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056182", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056182" } ] }, { "name": "tenascin-X O-glycosylated 38 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-3922 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P22105-3, Thr-3922, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056183", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056183" } ] }, { "name": "tenascin-X O-glycosylated 39 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-47 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-47, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056184", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056184" } ] }, { "name": "tenascin-X O-glycosylated 40 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-83 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-83, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056185", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056185" } ] }, { "name": "tenascin-X O-glycosylated 41 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-91 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P22105-3, Thr-91, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056186", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056186" } ] }, { "name": "tenascin-X O-glycosylated 42 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-91 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-91, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056187", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056187" } ] }, { "name": "tenascin-X O-glycosylated 43 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-936 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P22105-3, Thr-936, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056188", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056188" } ] }, { "name": "tenascin-X O-glycosylated 44 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-937 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G35029YA. Example: UniProtKB:P22105-3, Thr-937, MOD:00005~GNO:G35029YA. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056189", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056189" } ] }, { "name": "tenascin-X O-glycosylated 45 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-937 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-937, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056190", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056190" } ] }, { "name": "tenascin-X O-glycosylated 46 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-937 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P22105-3, Thr-937, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056191", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056191" } ] }, { "name": "tenascin-X O-glycosylated 47 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-947 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-947, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056192", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056192" } ] }, { "name": "tenascin-X O-glycosylated 48 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-947 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P22105-3, Thr-947, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056193", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056193" } ] }, { "name": "tenascin-X O-glycosylated 49 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-948 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P22105-3, Thr-948, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056194", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056194" } ] }, { "name": "tenascin-X O-glycosylated 50 (human)", "definition": "A tenascin-X (human) that has been O-glycosylated at the residue equivalent to Thr-948 of the amino acid sequence represented by UniProtKB:P22105-3, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P22105-3, Thr-948, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056195", "database": "PRO", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:000056195" } ] } ], "site_annotation": [ { "start_pos": 31, "end_pos": 33, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3855, "end_pos": 3857, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3908, "end_pos": 3910, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3920, "end_pos": 3922, "annotation": "n_glycosylation_sequon" }, { "start_pos": 4095, "end_pos": 4097, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [ { "pdb_id": "2cuh", "pdb_chain": "a", "start_pos": 3845, "end_pos": 3946, "overlap": "1.0", "method": "NMR_Spectroscopy", "type": "experimental", "resolution": 100.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/2cuh.pdb", "url_external": "https://www.rcsb.org/structure/2cuh" }, { "pdb_id": "2cui", "pdb_chain": "a", "start_pos": 3654, "end_pos": 3752, "overlap": "1.0", "method": "NMR_Spectroscopy", "type": "experimental", "resolution": 100.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/2cui.pdb", "url_external": "https://www.rcsb.org/structure/2cui" }, { "pdb_id": "2cum", "pdb_chain": "a", "start_pos": 3933, "end_pos": 4024, "overlap": "1.0", "method": "NMR_Spectroscopy", "type": "experimental", "resolution": 100.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/2cum.pdb", "url_external": "https://www.rcsb.org/structure/2cum" } ], "lectin_list": [], "domain_list": [ { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" } ], "ann_type": "Motif_Annotation", "uniprotkb_annotation": "Cell attachment site", "eco_id": "ECO_0000255", "start_pos": 1666, "end_pos": 1668, "start_aa": "Arg", "end_aa": "Asp", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 10", "eco_id": "ECO_0000255", "start_pos": 431, "end_pos": 461, "start_aa": "Gly", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 11", "eco_id": "ECO_0000255", "start_pos": 462, "end_pos": 492, "start_aa": "Gly", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 12", "eco_id": "ECO_0000255", "start_pos": 493, "end_pos": 523, "start_aa": "Gly", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 13", "eco_id": "ECO_0000255", "start_pos": 524, "end_pos": 554, "start_aa": "Gly", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 14", "eco_id": "ECO_0000255", "start_pos": 555, "end_pos": 585, "start_aa": "Ser", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 15", "eco_id": "ECO_0000255", "start_pos": 586, "end_pos": 616, "start_aa": "Gly", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 16", "eco_id": "ECO_0000255", "start_pos": 617, "end_pos": 647, "start_aa": "Ser", "end_aa": "Cys", "glycosite_overlap": [ { "position": 643, "amino_acid": "Thr" } ] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 17", "eco_id": "ECO_0000255", "start_pos": 648, "end_pos": 679, "start_aa": "Ala", "end_aa": "Gly", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 18", "eco_id": "ECO_0000255", "start_pos": 684, "end_pos": 714, "start_aa": "Pro", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 19", "eco_id": "ECO_0000255", "start_pos": 715, "end_pos": 746, "start_aa": "Ala", "end_aa": "Gly", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 1; incomplete", "eco_id": "ECO_0000255", "start_pos": 156, "end_pos": 168, "start_aa": "Cys", "end_aa": "Ser", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 2", "eco_id": "ECO_0000255", "start_pos": 183, "end_pos": 213, "start_aa": "Ala", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 3", "eco_id": "ECO_0000255", "start_pos": 214, "end_pos": 244, "start_aa": "Gly", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 4", "eco_id": "ECO_0000255", "start_pos": 245, "end_pos": 275, "start_aa": "Ser", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 5", "eco_id": "ECO_0000255", "start_pos": 276, "end_pos": 306, "start_aa": "Gly", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 6", "eco_id": "ECO_0000255", "start_pos": 307, "end_pos": 337, "start_aa": "Gly", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 7", "eco_id": "ECO_0000255", "start_pos": 338, "end_pos": 368, "start_aa": "Gly", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 8", "eco_id": "ECO_0000255", "start_pos": 369, "end_pos": 399, "start_aa": "Ser", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00076", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00076" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "EGF-like 9", "eco_id": "ECO_0000255", "start_pos": 400, "end_pos": 430, "start_aa": "Gly", "end_aa": "Cys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00739", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00739" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibrinogen C-terminal", "eco_id": "ECO_0000255", "start_pos": 4021, "end_pos": 4236, "start_aa": "Gly", "end_aa": "Asn", "glycosite_overlap": [ { "position": 4095, "amino_acid": "Asn" } ] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 1", "eco_id": "ECO_0000255", "start_pos": 751, "end_pos": 841, "start_aa": "Thr", "end_aa": "Asp", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 10", "eco_id": "ECO_0000255", "start_pos": 1674, "end_pos": 1764, "start_aa": "Pro", "end_aa": "Ala", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 11", "eco_id": "ECO_0000255", "start_pos": 1778, "end_pos": 1868, "start_aa": "Leu", "end_aa": "Thr", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 12", "eco_id": "ECO_0000255", "start_pos": 1883, "end_pos": 1971, "start_aa": "His", "end_aa": "Glu", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 13", "eco_id": "ECO_0000255", "start_pos": 1989, "end_pos": 2082, "start_aa": "Arg", "end_aa": "Pro", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 14", "eco_id": "ECO_0000255", "start_pos": 2097, "end_pos": 2185, "start_aa": "Leu", "end_aa": "Glu", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 15", "eco_id": "ECO_0000255", "start_pos": 2196, "end_pos": 2286, "start_aa": "Arg", "end_aa": "Glu", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 16", "eco_id": "ECO_0000255", "start_pos": 2305, "end_pos": 2398, "start_aa": "Arg", "end_aa": "Pro", "glycosite_overlap": [ { "position": 2324, "amino_acid": "thr" }, { "position": 2357, "amino_acid": "thr" } ] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 17", "eco_id": "ECO_0000255", "start_pos": 2408, "end_pos": 2502, "start_aa": "Pro", "end_aa": "Asp", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 18", "eco_id": "ECO_0000255", "start_pos": 2519, "end_pos": 2617, "start_aa": "Pro", "end_aa": "Ala", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 19", "eco_id": "ECO_0000255", "start_pos": 2625, "end_pos": 2723, "start_aa": "Pro", "end_aa": "Pro", "glycosite_overlap": [ { "position": 2649, "amino_acid": "thr" } ] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 2", "eco_id": "ECO_0000255", "start_pos": 842, "end_pos": 932, "start_aa": "Gly", "end_aa": "Gly", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 20", "eco_id": "ECO_0000255", "start_pos": 2733, "end_pos": 2826, "start_aa": "Pro", "end_aa": "Asp", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 21", "eco_id": "ECO_0000255", "start_pos": 2841, "end_pos": 2939, "start_aa": "Pro", "end_aa": "Pro", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 22", "eco_id": "ECO_0000255", "start_pos": 2949, "end_pos": 3042, "start_aa": "Pro", "end_aa": "Asp", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 23", "eco_id": "ECO_0000255", "start_pos": 3062, "end_pos": 3153, "start_aa": "Arg", "end_aa": "Pro", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 24", "eco_id": "ECO_0000255", "start_pos": 3168, "end_pos": 3260, "start_aa": "Leu", "end_aa": "Pro", "glycosite_overlap": [ { "position": 3257, "amino_acid": "thr" } ] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 25", "eco_id": "ECO_0000255", "start_pos": 3264, "end_pos": 3355, "start_aa": "Arg", "end_aa": "Ser", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 26", "eco_id": "ECO_0000255", "start_pos": 3357, "end_pos": 3446, "start_aa": "Arg", "end_aa": "Lys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 27", "eco_id": "ECO_0000255", "start_pos": 3451, "end_pos": 3544, "start_aa": "His", "end_aa": "Pro", "glycosite_overlap": [ { "position": 3541, "amino_acid": "thr" } ] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 28", "eco_id": "ECO_0000255", "start_pos": 3553, "end_pos": 3647, "start_aa": "Pro", "end_aa": "Ala", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 29", "eco_id": "ECO_0000255", "start_pos": 3657, "end_pos": 3754, "start_aa": "Arg", "end_aa": "Pro", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 3", "eco_id": "ECO_0000255", "start_pos": 959, "end_pos": 1051, "start_aa": "Arg", "end_aa": "Lys", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 30", "eco_id": "ECO_0000255", "start_pos": 3758, "end_pos": 3847, "start_aa": "Ser", "end_aa": "Gly", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 31", "eco_id": "ECO_0000255", "start_pos": 3848, "end_pos": 3934, "start_aa": "Pro", "end_aa": "Glu", "glycosite_overlap": [ { "position": 3880, "amino_acid": "thr" }, { "position": 3923, "amino_acid": "ser" }, { "position": 3922, "amino_acid": "thr" }, { "position": 3855, "amino_acid": "Asn" }, { "position": 3920, "amino_acid": "Asn" }, { "position": 3908, "amino_acid": "Asn" } ] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 32", "eco_id": "ECO_0000255", "start_pos": 3935, "end_pos": 4025, "start_aa": "Ala", "end_aa": "Pro", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 4", "eco_id": "ECO_0000255", "start_pos": 1064, "end_pos": 1153, "start_aa": "Arg", "end_aa": "Asp", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 5", "eco_id": "ECO_0000255", "start_pos": 1161, "end_pos": 1249, "start_aa": "His", "end_aa": "Arg", "glycosite_overlap": [ { "position": 1180, "amino_acid": "thr" } ] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 6", "eco_id": "ECO_0000255", "start_pos": 1263, "end_pos": 1352, "start_aa": "Leu", "end_aa": "Asp", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 7", "eco_id": "ECO_0000255", "start_pos": 1374, "end_pos": 1468, "start_aa": "Leu", "end_aa": "Ala", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 8", "eco_id": "ECO_0000255", "start_pos": 1476, "end_pos": 1566, "start_aa": "Arg", "end_aa": "Ala", "glycosite_overlap": [] }, { "evidence": [ { "id": "P22105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22105" }, { "id": "PRU00316", "database": "PROSITE", "url": "https://prosite.expasy.org/PRU00316" } ], "ann_type": "Domain_Extent_Annotation", "uniprotkb_annotation": "Fibronectin type-III 9", "eco_id": "ECO_0000255", "start_pos": 1574, "end_pos": 1669, "start_aa": "Pro", "end_aa": "Ala", "glycosite_overlap": [] } ], "binding_sites": [], "synthesized_glycans": [], "enzyme_annotation": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.agr", "label": "AGR Homologs" } ], "sequence_features": { "n_linked_sites": [ 31, 3855, 3908, 3920, 4095 ], "o_linked_sites": [ 47, 54, 83, 91, 166, 178, 643, 646, 852, 936, 937, 943, 946, 947, 948, 1158, 1180, 1323, 1364, 1469, 1569, 1862, 1872, 1873, 1876, 1981, 2083, 2292, 2297, 2324, 2357, 2399, 2510, 2514, 2649, 2837, 2838, 2943, 2944, 3052, 3054, 3154, 3158, 3257, 3541, 3880, 3922, 3923 ], "snv_sites": [ 2, 5, 6, 7, 8, 9, 10, 11, 13, 14, 16, 17, 20, 21, 23, 24, 25, 27, 29, 30, 31, 33, 35, 36, 37, 38, 39, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 58, 60, 61, 62, 65, 66, 67, 68, 69, 70, 71, 73, 74, 75, 76, 79, 80, 81, 82, 83, 86, 87, 88, 89, 90, 91, 92, 93, 94, 95, 96, 97, 98, 99, 100, 101, 102, 103, 104, 106, 107, 108, 109, 110, 111, 112, 116, 119, 120, 122, 124, 125, 127, 128, 129, 130, 132, 136, 137, 138, 139, 140, 141, 142, 143, 144, 146, 147, 150, 151, 152, 153, 154, 155, 156, 157, 159, 160, 161, 162, 163, 165, 166, 167, 168, 169, 170, 171, 172, 173, 174, 175, 176, 177, 178, 180, 181, 182, 184, 185, 186, 187, 188, 190, 192, 193, 194, 196, 197, 198, 199, 200, 201, 202, 203, 204, 206, 207, 209, 210, 211, 212, 214, 216, 217, 218, 219, 220, 222, 223, 224, 225, 226, 227, 229, 231, 232, 233, 236, 237, 238, 239, 240, 241, 242, 243, 245, 247, 248, 249, 250, 251, 252, 253, 254, 257, 258, 259, 260, 261, 263, 264, 265, 266, 267, 268, 269, 271, 272, 273, 274, 276, 277, 278, 279, 280, 281, 282, 283, 285, 286, 287, 288, 289, 291, 292, 293, 294, 295, 296, 298, 299, 300, 302, 303, 304, 305, 306, 307, 308, 311, 312, 313, 316, 318, 319, 320, 321, 322, 323, 324, 325, 327, 329, 330, 331, 332, 333, 335, 336, 337, 338, 339, 340, 341, 343, 344, 345, 348, 349, 350, 352, 353, 354, 355, 356, 357, 358, 359, 360, 361, 362, 363, 365, 366, 367, 368, 369, 370, 371, 372, 374, 375, 376, 377, 378, 379, 380, 381, 382, 383, 384, 385, 386, 387, 388, 389, 390, 391, 392, 394, 395, 396, 397, 398, 400, 401, 402, 403, 405, 406, 407, 408, 409, 411, 412, 413, 414, 415, 416, 417, 418, 419, 420, 423, 424, 425, 426, 428, 429, 430, 431, 432, 433, 434, 435, 436, 437, 438, 439, 440, 442, 443, 445, 446, 447, 448, 449, 452, 453, 454, 455, 456, 457, 458, 459, 460, 461, 462, 463, 465, 466, 467, 468, 469, 470, 471, 473, 474, 475, 476, 478, 479, 480, 481, 482, 484, 485, 486, 487, 488, 489, 490, 491, 492, 493, 494, 496, 497, 498, 499, 500, 501, 502, 503, 504, 505, 506, 508, 509, 511, 512, 513, 514, 515, 516, 517, 518, 519, 520, 522, 523, 525, 526, 527, 528, 530, 531, 532, 533, 534, 535, 536, 537, 538, 539, 541, 542, 544, 545, 546, 547, 548, 549, 550, 551, 552, 555, 556, 557, 558, 559, 560, 561, 562, 563, 564, 565, 566, 567, 569, 571, 572, 573, 576, 577, 578, 579, 580, 583, 584, 586, 588, 589, 591, 592, 593, 595, 596, 597, 599, 600, 601, 602, 603, 604, 605, 606, 607, 608, 609, 610, 611, 612, 613, 614, 615, 616, 617, 618, 619, 620, 621, 622, 623, 624, 625, 626, 627, 628, 629, 630, 632, 633, 634, 635, 637, 638, 639, 640, 641, 643, 644, 645, 646, 647, 648, 649, 650, 651, 652, 653, 654, 655, 657, 658, 659, 660, 661, 662, 663, 664, 666, 667, 668, 669, 670, 671, 672, 673, 674, 675, 676, 677, 678, 679, 681, 682, 685, 687, 688, 689, 690, 691, 692, 693, 694, 695, 696, 697, 699, 700, 701, 702, 703, 704, 706, 707, 708, 710, 712, 714, 716, 717, 718, 720, 721, 722, 723, 724, 726, 728, 729, 730, 731, 733, 734, 736, 738, 742, 743, 746, 747, 748, 749, 750, 752, 753, 754, 755, 757, 759, 760, 763, 766, 768, 769, 771, 772, 773, 775, 776, 778, 779, 780, 782, 784, 785, 786, 787, 788, 789, 790, 791, 792, 793, 794, 795, 796, 797, 798, 799, 800, 801, 802, 803, 805, 808, 810, 811, 812, 813, 814, 815, 817, 818, 819, 821, 822, 823, 824, 827, 828, 829, 830, 832, 835, 837, 838, 839, 840, 841, 843, 844, 847, 848, 849, 853, 856, 860, 861, 862, 863, 864, 865, 866, 867, 869, 870, 871, 873, 874, 875, 876, 878, 879, 880, 881, 882, 883, 886, 887, 888, 890, 891, 892, 893, 898, 899, 901, 902, 903, 906, 908, 909, 910, 911, 912, 913, 914, 915, 916, 918, 919, 920, 921, 924, 925, 926, 927, 928, 929, 930, 931, 932, 935, 936, 938, 939, 940, 941, 942, 944, 945, 946, 947, 948, 950, 951, 952, 953, 954, 955, 957, 958, 959, 960, 961, 962, 964, 965, 967, 968, 969, 970, 971, 972, 973, 974, 975, 976, 977, 978, 981, 982, 983, 985, 987, 989, 990, 991, 992, 993, 994, 995, 996, 997, 998, 999, 1000, 1001, 1002, 1003, 1004, 1005, 1006, 1010, 1011, 1012, 1013, 1014, 1015, 1016, 1017, 1018, 1019, 1020, 1021, 1022, 1025, 1028, 1030, 1031, 1032, 1033, 1035, 1036, 1037, 1038, 1039, 1040, 1042, 1043, 1044, 1046, 1047, 1048, 1049, 1050, 1051, 1052, 1053, 1054, 1055, 1056, 1061, 1062, 1063, 1064, 1065, 1067, 1068, 1069, 1070, 1071, 1072, 1073, 1074, 1076, 1077, 1079, 1081, 1082, 1083, 1085, 1086, 1087, 1088, 1090, 1091, 1093, 1094, 1096, 1097, 1098, 1099, 1100, 1101, 1102, 1106, 1107, 1108, 1109, 1110, 1111, 1112, 1113, 1114, 1115, 1116, 1117, 1119, 1124, 1127, 1130, 1131, 1132, 1134, 1135, 1136, 1137, 1138, 1139, 1140, 1141, 1143, 1146, 1147, 1150, 1152, 1154, 1155, 1156, 1157, 1158, 1159, 1161, 1163, 1164, 1167, 1168, 1169, 1171, 1172, 1173, 1176, 1177, 1178, 1179, 1180, 1181, 1182, 1183, 1186, 1188, 1190, 1191, 1192, 1193, 1194, 1195, 1196, 1197, 1198, 1199, 1200, 1201, 1202, 1203, 1205, 1207, 1209, 1210, 1213, 1214, 1215, 1216, 1217, 1218, 1219, 1220, 1221, 1222, 1224, 1225, 1227, 1228, 1229, 1230, 1231, 1235, 1237, 1238, 1239, 1240, 1241, 1242, 1244, 1245, 1246, 1248, 1249, 1250, 1251, 1252, 1253, 1254, 1255, 1256, 1257, 1260, 1262, 1263, 1265, 1266, 1270, 1271, 1272, 1274, 1275, 1276, 1278, 1279, 1281, 1283, 1285, 1286, 1287, 1288, 1291, 1292, 1294, 1296, 1297, 1299, 1301, 1302, 1303, 1304, 1306, 1307, 1308, 1309, 1310, 1311, 1314, 1315, 1316, 1317, 1318, 1319, 1320, 1321, 1322, 1323, 1324, 1325, 1326, 1327, 1328, 1329, 1330, 1331, 1333, 1334, 1335, 1336, 1337, 1338, 1339, 1340, 1341, 1342, 1345, 1346, 1348, 1349, 1350, 1351, 1354, 1355, 1356, 1357, 1358, 1359, 1362, 1364, 1365, 1366, 1367, 1369, 1371, 1373, 1374, 1382, 1384, 1385, 1387, 1390, 1393, 1394, 1395, 1396, 1398, 1400, 1401, 1402, 1404, 1406, 1407, 1408, 1409, 1410, 1411, 1412, 1413, 1414, 1415, 1417, 1418, 1419, 1420, 1421, 1422, 1424, 1425, 1426, 1427, 1428, 1429, 1433, 1434, 1435, 1436, 1437, 1438, 1439, 1440, 1442, 1445, 1446, 1447, 1448, 1449, 1451, 1452, 1453, 1454, 1455, 1457, 1461, 1462, 1463, 1464, 1465, 1466, 1467, 1469, 1471, 1472, 1473, 1475, 1476, 1478, 1480, 1481, 1482, 1484, 1485, 1487, 1490, 1492, 1494, 1495, 1497, 1498, 1499, 1500, 1501, 1503, 1504, 1505, 1507, 1508, 1511, 1512, 1513, 1514, 1515, 1516, 1517, 1518, 1519, 1521, 1522, 1524, 1525, 1527, 1528, 1529, 1534, 1538, 1540, 1541, 1542, 1544, 1546, 1547, 1548, 1549, 1550, 1551, 1552, 1553, 1555, 1557, 1558, 1559, 1560, 1561, 1562, 1563, 1564, 1565, 1567, 1568, 1571, 1572, 1573, 1574, 1575, 1578, 1579, 1581, 1582, 1584, 1586, 1587, 1588, 1589, 1590, 1592, 1593, 1594, 1596, 1597, 1599, 1600, 1601, 1604, 1605, 1606, 1607, 1608, 1610, 1611, 1613, 1616, 1617, 1618, 1619, 1620, 1621, 1623, 1624, 1625, 1627, 1628, 1629, 1630, 1631, 1632, 1633, 1634, 1635, 1636, 1637, 1638, 1639, 1640, 1641, 1642, 1643, 1644, 1645, 1647, 1649, 1650, 1651, 1653, 1654, 1655, 1658, 1661, 1662, 1663, 1664, 1665, 1666, 1667, 1669, 1670, 1671, 1673, 1674, 1675, 1676, 1677, 1679, 1680, 1681, 1682, 1683, 1684, 1685, 1686, 1687, 1688, 1691, 1692, 1693, 1694, 1695, 1697, 1698, 1700, 1701, 1702, 1703, 1704, 1705, 1707, 1708, 1710, 1712, 1713, 1714, 1715, 1716, 1717, 1718, 1719, 1721, 1722, 1724, 1725, 1727, 1728, 1729, 1730, 1733, 1734, 1735, 1736, 1738, 1739, 1740, 1741, 1742, 1743, 1744, 1746, 1748, 1749, 1750, 1751, 1752, 1754, 1755, 1756, 1757, 1758, 1759, 1761, 1762, 1763, 1764, 1765, 1766, 1767, 1768, 1769, 1770, 1771, 1772, 1773, 1774, 1775, 1777, 1778, 1779, 1780, 1781, 1782, 1784, 1786, 1787, 1788, 1789, 1790, 1791, 1792, 1793, 1794, 1795, 1796, 1799, 1800, 1801, 1805, 1806, 1807, 1809, 1810, 1813, 1814, 1815, 1816, 1817, 1818, 1820, 1822, 1823, 1824, 1826, 1827, 1828, 1830, 1831, 1832, 1833, 1835, 1836, 1837, 1838, 1839, 1840, 1841, 1842, 1844, 1846, 1848, 1849, 1850, 1852, 1853, 1854, 1855, 1856, 1857, 1858, 1859, 1860, 1861, 1862, 1863, 1864, 1865, 1866, 1867, 1868, 1869, 1870, 1871, 1872, 1873, 1874, 1875, 1876, 1877, 1878, 1879, 1882, 1883, 1884, 1885, 1886, 1887, 1888, 1889, 1890, 1891, 1892, 1893, 1894, 1895, 1896, 1897, 1898, 1899, 1900, 1903, 1905, 1906, 1907, 1908, 1909, 1910, 1912, 1914, 1915, 1916, 1917, 1918, 1920, 1922, 1924, 1925, 1926, 1927, 1928, 1929, 1930, 1931, 1933, 1934, 1935, 1936, 1937, 1938, 1941, 1942, 1943, 1945, 1948, 1949, 1950, 1951, 1953, 1955, 1957, 1958, 1959, 1961, 1964, 1965, 1967, 1968, 1969, 1971, 1972, 1973, 1975, 1976, 1977, 1978, 1979, 1980, 1981, 1982, 1983, 1984, 1985, 1986, 1988, 1989, 1990, 1991, 1992, 1994, 1995, 1996, 1997, 1998, 2000, 2001, 2003, 2004, 2008, 2009, 2010, 2011, 2012, 2013, 2014, 2015, 2017, 2018, 2019, 2020, 2021, 2022, 2023, 2024, 2025, 2026, 2030, 2034, 2035, 2036, 2037, 2038, 2039, 2042, 2043, 2044, 2045, 2047, 2048, 2049, 2050, 2051, 2052, 2053, 2054, 2055, 2056, 2057, 2059, 2060, 2063, 2064, 2066, 2067, 2069, 2070, 2071, 2072, 2073, 2074, 2075, 2077, 2078, 2079, 2080, 2081, 2084, 2085, 2086, 2087, 2089, 2090, 2091, 2092, 2093, 2094, 2095, 2096, 2098, 2099, 2100, 2101, 2102, 2103, 2105, 2107, 2108, 2110, 2114, 2115, 2116, 2117, 2118, 2120, 2121, 2122, 2123, 2124, 2125, 2126, 2127, 2128, 2130, 2131, 2132, 2134, 2135, 2136, 2138, 2139, 2140, 2141, 2142, 2143, 2144, 2145, 2148, 2149, 2150, 2151, 2152, 2153, 2154, 2155, 2156, 2157, 2160, 2161, 2162, 2165, 2166, 2167, 2168, 2169, 2170, 2171, 2172, 2173, 2174, 2175, 2176, 2177, 2178, 2180, 2181, 2182, 2183, 2184, 2187, 2188, 2189, 2190, 2191, 2193, 2194, 2195, 2196, 2199, 2200, 2201, 2203, 2204, 2206, 2208, 2209, 2210, 2211, 2213, 2214, 2215, 2216, 2217, 2218, 2221, 2223, 2224, 2225, 2227, 2228, 2229, 2231, 2232, 2233, 2234, 2235, 2237, 2238, 2239, 2241, 2242, 2243, 2244, 2245, 2246, 2247, 2248, 2249, 2250, 2251, 2252, 2253, 2254, 2256, 2257, 2258, 2259, 2260, 2261, 2263, 2264, 2266, 2267, 2269, 2270, 2271, 2272, 2273, 2274, 2275, 2277, 2278, 2280, 2281, 2282, 2283, 2285, 2287, 2288, 2289, 2290, 2291, 2292, 2294, 2295, 2296, 2297, 2299, 2300, 2301, 2302, 2303, 2305, 2308, 2310, 2311, 2312, 2313, 2314, 2315, 2316, 2317, 2318, 2319, 2320, 2321, 2322, 2323, 2324, 2325, 2326, 2327, 2331, 2332, 2333, 2334, 2335, 2336, 2337, 2338, 2340, 2341, 2342, 2345, 2346, 2347, 2348, 2349, 2350, 2351, 2352, 2353, 2354, 2355, 2357, 2360, 2361, 2363, 2364, 2365, 2366, 2368, 2369, 2370, 2371, 2372, 2373, 2375, 2376, 2378, 2379, 2380, 2381, 2382, 2383, 2384, 2385, 2386, 2387, 2388, 2389, 2390, 2391, 2392, 2393, 2394, 2395, 2396, 2397, 2398, 2399, 2400, 2401, 2402, 2403, 2404, 2405, 2406, 2407, 2408, 2409, 2410, 2411, 2412, 2413, 2415, 2416, 2418, 2420, 2421, 2422, 2425, 2426, 2427, 2429, 2431, 2433, 2434, 2436, 2437, 2438, 2439, 2442, 2443, 2444, 2445, 2446, 2447, 2449, 2450, 2451, 2452, 2453, 2454, 2455, 2456, 2457, 2458, 2459, 2460, 2461, 2463, 2464, 2465, 2466, 2467, 2468, 2469, 2470, 2471, 2472, 2473, 2476, 2477, 2478, 2479, 2480, 2481, 2483, 2484, 2485, 2486, 2487, 2488, 2490, 2491, 2492, 2493, 2494, 2495, 2496, 2498, 2500, 2501, 2502, 2503, 2504, 2505, 2506, 2507, 2508, 2509, 2510, 2511, 2512, 2513, 2514, 2516, 2517, 2518, 2519, 2520, 2521, 2523, 2525, 2526, 2527, 2530, 2531, 2532, 2533, 2535, 2536, 2537, 2538, 2539, 2541, 2543, 2544, 2545, 2546, 2548, 2549, 2550, 2551, 2552, 2553, 2554, 2555, 2557, 2558, 2559, 2560, 2561, 2562, 2563, 2565, 2566, 2567, 2568, 2569, 2571, 2572, 2573, 2574, 2576, 2578, 2582, 2584, 2585, 2587, 2588, 2589, 2590, 2591, 2592, 2593, 2594, 2595, 2596, 2597, 2598, 2599, 2600, 2601, 2602, 2603, 2604, 2605, 2606, 2607, 2608, 2609, 2610, 2611, 2612, 2613, 2614, 2617, 2619, 2620, 2621, 2623, 2624, 2625, 2626, 2627, 2628, 2629, 2630, 2632, 2633, 2634, 2636, 2639, 2640, 2641, 2643, 2644, 2648, 2649, 2650, 2651, 2652, 2653, 2654, 2656, 2660, 2663, 2664, 2665, 2666, 2667, 2668, 2669, 2670, 2671, 2673, 2675, 2676, 2677, 2678, 2679, 2680, 2681, 2682, 2683, 2685, 2686, 2687, 2688, 2690, 2692, 2693, 2695, 2698, 2701, 2702, 2703, 2704, 2705, 2706, 2707, 2708, 2709, 2710, 2711, 2713, 2714, 2715, 2716, 2717, 2718, 2719, 2721, 2722, 2723, 2724, 2725, 2726, 2728, 2729, 2730, 2731, 2732, 2734, 2735, 2736, 2737, 2738, 2741, 2742, 2743, 2746, 2747, 2748, 2749, 2750, 2751, 2753, 2754, 2755, 2757, 2758, 2759, 2760, 2761, 2762, 2763, 2764, 2765, 2767, 2768, 2769, 2770, 2773, 2774, 2775, 2776, 2777, 2779, 2780, 2781, 2783, 2784, 2785, 2786, 2787, 2788, 2789, 2790, 2791, 2792, 2793, 2794, 2795, 2797, 2798, 2799, 2800, 2802, 2803, 2804, 2805, 2806, 2808, 2809, 2810, 2811, 2812, 2813, 2815, 2816, 2818, 2819, 2820, 2821, 2823, 2824, 2825, 2826, 2827, 2828, 2829, 2830, 2831, 2832, 2834, 2835, 2837, 2838, 2839, 2840, 2841, 2842, 2843, 2844, 2845, 2846, 2847, 2848, 2849, 2850, 2851, 2852, 2854, 2856, 2857, 2858, 2859, 2861, 2862, 2864, 2865, 2866, 2867, 2868, 2870, 2871, 2872, 2873, 2877, 2878, 2879, 2880, 2882, 2883, 2884, 2885, 2886, 2887, 2888, 2889, 2890, 2891, 2892, 2894, 2896, 2897, 2898, 2900, 2901, 2902, 2903, 2905, 2906, 2909, 2911, 2912, 2913, 2914, 2916, 2917, 2920, 2921, 2922, 2923, 2924, 2927, 2928, 2930, 2931, 2932, 2933, 2934, 2935, 2937, 2938, 2939, 2940, 2942, 2943, 2944, 2945, 2946, 2947, 2948, 2949, 2950, 2951, 2952, 2953, 2954, 2956, 2960, 2961, 2962, 2963, 2965, 2966, 2967, 2969, 2970, 2972, 2974, 2975, 2977, 2978, 2980, 2981, 2982, 2984, 2985, 2986, 2987, 2988, 2989, 2990, 2991, 2992, 2993, 2994, 2995, 2996, 2997, 2998, 2999, 3000, 3001, 3002, 3003, 3004, 3005, 3006, 3007, 3008, 3009, 3010, 3011, 3012, 3013, 3014, 3015, 3016, 3017, 3018, 3019, 3020, 3022, 3023, 3024, 3025, 3026, 3027, 3028, 3029, 3030, 3031, 3032, 3033, 3034, 3036, 3037, 3038, 3040, 3041, 3042, 3043, 3044, 3045, 3047, 3049, 3051, 3052, 3053, 3054, 3055, 3057, 3058, 3059, 3062, 3063, 3064, 3067, 3068, 3069, 3070, 3071, 3072, 3074, 3075, 3076, 3077, 3079, 3080, 3081, 3082, 3084, 3087, 3088, 3089, 3090, 3091, 3093, 3094, 3097, 3098, 3099, 3100, 3101, 3102, 3103, 3104, 3105, 3107, 3108, 3109, 3110, 3111, 3112, 3113, 3114, 3115, 3117, 3119, 3120, 3121, 3122, 3125, 3127, 3128, 3130, 3132, 3133, 3134, 3136, 3137, 3138, 3139, 3140, 3141, 3142, 3143, 3146, 3149, 3150, 3151, 3152, 3153, 3154, 3155, 3156, 3158, 3159, 3160, 3161, 3162, 3163, 3164, 3165, 3166, 3167, 3170, 3171, 3174, 3175, 3176, 3179, 3181, 3184, 3185, 3186, 3188, 3189, 3190, 3191, 3192, 3193, 3194, 3195, 3196, 3197, 3198, 3199, 3200, 3203, 3205, 3206, 3207, 3209, 3210, 3211, 3212, 3213, 3214, 3215, 3216, 3217, 3218, 3220, 3221, 3222, 3223, 3224, 3225, 3226, 3227, 3228, 3230, 3231, 3232, 3236, 3237, 3238, 3239, 3241, 3242, 3243, 3244, 3246, 3247, 3248, 3249, 3250, 3251, 3252, 3253, 3255, 3256, 3257, 3258, 3260, 3261, 3262, 3263, 3264, 3266, 3267, 3269, 3270, 3271, 3272, 3273, 3275, 3276, 3277, 3278, 3280, 3282, 3283, 3284, 3285, 3286, 3288, 3290, 3291, 3293, 3294, 3295, 3297, 3298, 3299, 3300, 3301, 3302, 3303, 3304, 3305, 3307, 3310, 3312, 3313, 3314, 3315, 3316, 3317, 3318, 3320, 3321, 3322, 3323, 3324, 3325, 3326, 3327, 3328, 3330, 3331, 3334, 3335, 3336, 3338, 3339, 3340, 3342, 3344, 3345, 3346, 3347, 3349, 3350, 3351, 3352, 3354, 3356, 3357, 3358, 3359, 3360, 3363, 3365, 3366, 3367, 3370, 3371, 3372, 3373, 3374, 3375, 3376, 3378, 3379, 3381, 3382, 3383, 3384, 3386, 3388, 3391, 3393, 3394, 3395, 3397, 3398, 3399, 3400, 3403, 3404, 3405, 3406, 3411, 3412, 3413, 3414, 3415, 3416, 3419, 3420, 3423, 3424, 3426, 3428, 3430, 3431, 3433, 3434, 3435, 3436, 3437, 3439, 3440, 3441, 3442, 3443, 3444, 3445, 3446, 3447, 3450, 3451, 3453, 3454, 3456, 3457, 3458, 3460, 3461, 3463, 3464, 3465, 3466, 3467, 3468, 3469, 3470, 3471, 3472, 3473, 3474, 3476, 3477, 3478, 3479, 3480, 3481, 3482, 3483, 3484, 3485, 3486, 3487, 3488, 3489, 3490, 3491, 3492, 3493, 3494, 3495, 3497, 3498, 3499, 3500, 3501, 3503, 3504, 3506, 3507, 3508, 3509, 3511, 3512, 3513, 3516, 3517, 3518, 3519, 3520, 3521, 3522, 3523, 3524, 3525, 3527, 3528, 3529, 3530, 3531, 3532, 3533, 3534, 3535, 3536, 3539, 3541, 3542, 3543, 3545, 3546, 3547, 3548, 3550, 3551, 3552, 3553, 3555, 3556, 3558, 3560, 3561, 3562, 3563, 3564, 3565, 3566, 3567, 3568, 3569, 3570, 3571, 3572, 3573, 3574, 3575, 3576, 3577, 3578, 3579, 3581, 3582, 3583, 3585, 3587, 3589, 3590, 3591, 3592, 3593, 3595, 3596, 3597, 3598, 3599, 3601, 3602, 3603, 3604, 3605, 3606, 3607, 3610, 3611, 3612, 3613, 3614, 3616, 3617, 3618, 3619, 3621, 3624, 3625, 3626, 3627, 3628, 3629, 3630, 3631, 3632, 3634, 3635, 3636, 3637, 3639, 3640, 3641, 3642, 3643, 3645, 3646, 3647, 3649, 3650, 3651, 3653, 3654, 3655, 3656, 3657, 3662, 3666, 3668, 3672, 3674, 3678, 3679, 3681, 3682, 3683, 3684, 3688, 3691, 3692, 3693, 3695, 3696, 3699, 3701, 3702, 3703, 3706, 3707, 3708, 3710, 3712, 3714, 3715, 3717, 3719, 3721, 3723, 3724, 3726, 3727, 3728, 3732, 3733, 3736, 3737, 3740, 3743, 3749, 3750, 3751, 3754, 3755, 3756, 3757, 3758, 3759, 3760, 3762, 3768, 3769, 3772, 3773, 3774, 3775, 3777, 3778, 3779, 3780, 3782, 3783, 3785, 3787, 3790, 3791, 3793, 3794, 3795, 3796, 3797, 3798, 3799, 3800, 3802, 3803, 3804, 3805, 3806, 3807, 3808, 3810, 3811, 3812, 3813, 3814, 3815, 3816, 3817, 3818, 3819, 3820, 3821, 3823, 3824, 3825, 3826, 3827, 3829, 3830, 3831, 3832, 3833, 3834, 3835, 3837, 3838, 3839, 3840, 3841, 3842, 3843, 3844, 3845, 3846, 3847, 3850, 3851, 3852, 3855, 3857, 3858, 3859, 3860, 3861, 3862, 3863, 3864, 3866, 3867, 3868, 3869, 3870, 3871, 3872, 3873, 3874, 3875, 3877, 3878, 3880, 3881, 3883, 3885, 3886, 3889, 3892, 3895, 3896, 3899, 3901, 3911, 3913, 3914, 3917, 3929, 3935, 3937, 3942, 3944, 3945, 3947, 3949, 3953, 3956, 3957, 3958, 3959, 3969, 3970, 3972, 3973, 3974, 3976, 3977, 3979, 3981, 3982, 3983, 3985, 3986, 3988, 3989, 3992, 3993, 3995, 3997, 3999, 4000, 4001, 4002, 4003, 4004, 4008, 4009, 4011, 4013, 4014, 4016, 4018, 4019, 4020, 4021, 4022, 4023, 4024, 4025, 4027, 4028, 4030, 4031, 4032, 4033, 4034, 4036, 4037, 4038, 4039, 4040, 4041, 4042, 4044, 4045, 4048, 4050, 4052, 4053, 4054, 4055, 4056, 4057, 4058, 4060, 4061, 4062, 4063, 4064, 4065, 4067, 4068, 4069, 4074, 4075, 4076, 4077, 4078, 4079, 4080, 4081, 4082, 4083, 4084, 4086, 4087, 4090, 4091, 4092, 4093, 4095, 4096, 4101, 4102, 4108, 4109, 4113, 4114, 4115, 4116, 4118, 4119, 4120, 4122, 4123, 4125, 4126, 4127, 4131, 4134, 4136, 4138, 4139, 4140, 4142, 4143, 4145, 4146, 4147, 4148, 4150, 4151, 4153, 4154, 4155, 4156, 4157, 4158, 4160, 4161, 4162, 4163, 4164, 4165, 4166, 4169, 4170, 4171, 4173, 4174, 4176, 4177, 4179, 4180, 4181, 4182, 4183, 4184, 4185, 4187, 4189, 4190, 4193, 4194, 4195, 4197, 4198, 4199, 4201, 4202, 4204, 4205, 4210, 4211, 4213, 4214, 4215, 4217, 4222, 4224, 4226, 4227, 4228, 4230, 4233, 4235, 4237, 4238, 4239, 4241, 4242, 4243, 4244 ], "sites_with_glycoeffect": [ 1469, 1158, 1242, 1330, 1364, 1364, 1421, 1587, 166, 1756, 1766, 178, 1862, 1868, 1870, 1873, 1873, 1876, 1876, 1934, 1981, 1981, 2004, 2211, 2292, 2292, 2297, 2313, 2320, 2324, 2324, 2324, 2357, 2399, 243, 2510, 2514, 2514, 2649, 2837, 2838, 2838, 2861, 2913, 2943, 2943, 2944, 2944, 294, 3052, 3054, 3054, 3054, 3154, 3154, 3154, 3158, 3158, 31, 31, 31, 3257, 33, 3541, 3566, 3605, 3855, 3857, 3880, 397, 3983, 4038, 4095, 4095, 4115, 4153, 4238, 455, 47, 47, 54, 643, 643, 643, 646, 646, 731, 80, 835, 83, 891, 91, 936, 946, 947, 948, 972, 1040, 1069, 1069, 1069, 1071, 1071, 1071, 1074, 1074, 1077, 1083, 1091, 1096, 1096, 10, 1114, 1119, 1131, 1131, 1152, 1155, 1168, 1171, 1178, 1188, 1188, 1188, 1193, 11, 11, 1215, 1216, 122, 122, 1240, 1240, 1244, 1244, 1244, 1245, 1270, 1276, 1276, 129, 1315, 1325, 1330, 1342, 1342, 1356, 1358, 1358, 1369, 1369, 137, 1384, 1387, 1393, 1398, 1401, 1406, 141, 1426, 144, 1453, 1465, 1465, 1465, 1471, 1471, 1481, 1495, 1495, 1503, 1508, 1528, 152, 1538, 1555, 155, 1560, 1572, 157, 1584, 1586, 1586, 1592, 1592, 1596, 1606, 1611, 1611, 1631, 1638, 1641, 1655, 1655, 1658, 1663, 1670, 1670, 1683, 1683, 1686, 1686, 168, 1693, 1693, 1695, 1703, 1703, 171, 171, 1725, 1725, 1727, 1729, 1742, 1754, 1758, 1759, 1763, 1763, 1768, 1786, 1786, 1788, 1788, 1791, 1795, 1805, 1810, 1810, 1810, 182, 1830, 1840, 184, 184, 1857, 186, 1870, 1888, 1893, 1894, 1896, 1900, 1910, 1915, 1916, 1916, 1935, 1935, 1937, 1937, 1941, 1945, 1948, 1950, 1953, 1953, 1967, 1975, 1979, 1994, 1994, 1996, 2004, 2008, 2021, 2043, 2051, 2056, 2073, 2079, 2081, 2081, 2081, 2081, 2086, 209, 20, 2102, 2102, 2107, 2107, 2110, 2114, 2116, 2116, 2124, 212, 2149, 2176, 217, 2181, 2187, 2201, 2206, 2209, 2211, 2213, 2213, 2215, 2215, 2248, 2248, 2250, 2258, 2263, 2275, 2280, 2310, 2310, 2312, 2315, 2318, 2322, 2337, 2337, 2347, 2372, 2372, 2389, 2395, 2395, 2397, 2397, 2402, 2402, 240, 2418, 2420, 2422, 2426, 2426, 2426, 2442, 2442, 2445, 245, 2465, 2480, 248, 2492, 2493, 2506, 2506, 2508, 2531, 2531, 2533, 2533, 2537, 2539, 2541, 2543, 254, 2551, 2551, 2553, 2573, 2576, 2591, 2591, 2603, 2608, 2620, 2620, 2640, 2643, 2643, 2682, 2714, 2714, 2714, 271, 2722, 2722, 2722, 2724, 2728, 2728, 2743, 2743, 2747, 2748, 2748, 2751, 2751, 2753, 2755, 2757, 2765, 2767, 2770, 2787, 2790, 279, 279, 27, 27, 2800, 2800, 2805, 2818, 2830, 2831, 2831, 2851, 2856, 2859, 285, 2898, 2900, 2930, 2940, 2940, 2940, 2961, 2963, 2967, 2967, 2967, 2969, 2969, 2969, 2981, 2981, 2986, 3003, 3003, 3003, 3006, 3016, 3016, 302, 302, 3033, 3033, 3038, 3047, 3047, 3067, 3069, 3069, 3075, 3077, 3079, 3079, 3094, 30, 3114, 3146, 3150, 316, 3181, 3181, 3185, 3185, 3195, 3195, 3195, 3197, 3197, 3197, 3200, 3200, 3217, 3220, 3230, 3230, 3230, 3247, 3247, 3248, 3248, 3252, 3252, 3275, 3277, 3283, 3291, 3291, 3291, 3318, 3326, 332, 333, 333, 3352, 3367, 3370, 3374, 3376, 3384, 3384, 339, 3416, 3416, 3419, 341, 3424, 3436, 3439, 3440, 3441, 3441, 3461, 3463, 3464, 3464, 3468, 3470, 3478, 3483, 3483, 3486, 3486, 3486, 3501, 3503, 3503, 3503, 3513, 3518, 3530, 3535, 3563, 3565, 3567, 3567, 3568, 3571, 3575, 3575, 3575, 3577, 3585, 3585, 3590, 3593, 3593, 3607, 3607, 3612, 3612, 3617, 3618, 3618, 3618, 3625, 3637, 363, 3641, 3642, 3650, 3654, 3662, 3668, 3684, 3693, 3695, 369, 369, 369, 370, 370, 3714, 3717, 3727, 372, 3732, 3751, 3758, 3785, 3785, 3790, 3790, 3790, 3800, 3821, 3824, 3824, 3827, 3827, 3834, 3834, 3838, 3838, 3838, 3838, 3842, 3843, 3843, 3874, 3874, 3875, 392, 392, 392, 3945, 394, 395, 3969, 3985, 3995, 3995, 3997, 3997, 4008, 4008, 4014, 4014, 4016, 4018, 4019, 4019, 403, 4041, 4044, 4044, 4045, 4064, 4080, 4109, 4116, 4116, 4140, 4145, 4155, 4161, 4164, 4166, 4169, 4177, 4181, 4185, 4197, 4204, 4224, 4224, 4228, 4239, 4239, 425, 426, 432, 432, 456, 457, 457, 457, 465, 465, 478, 478, 487, 488, 519, 519, 525, 549, 550, 555, 555, 556, 556, 558, 56, 56, 56, 580, 580, 580, 592, 595, 595, 595, 60, 60, 611, 613, 613, 617, 617, 620, 620, 620, 623, 623, 649, 673, 6, 718, 733, 733, 74, 763, 779, 786, 786, 786, 787, 787, 791, 791, 795, 800, 801, 801, 801, 803, 805, 819, 819, 827, 827, 82, 835, 837, 838, 873, 873, 873, 874, 876, 893, 909, 918, 921, 926, 926, 926, 928, 928, 928, 929, 929, 974, 974, 982, 982, 982, 987, 98, 98, 990, 9 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 31, "end_pos": 33 }, { "start_pos": 3855, "end_pos": 3857 }, { "start_pos": 3908, "end_pos": 3910 }, { "start_pos": 3920, "end_pos": 3922 }, { "start_pos": 4095, "end_pos": 4097 } ] }, "class_list": [ "glycogene" ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 88 }, { "field": "total_sites", "count": 53 }, { "field": "n_linked_sites", "count": 5 }, { "field": "o_linked_sites", "count": 48 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 39 }, { "field": "n_linked_glycans", "count": 19 }, { "field": "o_linked_glycans", "count": 8 }, { "field": "exact_sites", "count": 53 }, { "field": "exact_o_linked_sites", "count": 48 }, { "field": "exact_o_linked_glycan_sites", "count": 39 }, { "field": "exact_o_linked_glycans", "count": 8 }, { "field": "exact_n_linked_sites", "count": 5 }, { "field": "exact_n_linked_glycan_sites", "count": 2 }, { "field": "exact_n_linked_glycans", "count": 19 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_sites", "count": 2 }, { "field": "o_linked_sites", "count": 3 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 5 }, { "field": "exact_o_linked_sites", "count": 3 }, { "field": "exact_n_linked_sites", "count": 2 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 71 }, { "field": "total_sites", "count": 41 }, { "field": "n_linked_sites", "count": 2 }, { "field": "o_linked_sites", "count": 39 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 39 }, { "field": "n_linked_glycans", "count": 19 }, { "field": "o_linked_glycans", "count": 8 }, { "field": "exact_sites", "count": 41 }, { "field": "exact_o_linked_sites", "count": 39 }, { "field": "exact_o_linked_glycan_sites", "count": 39 }, { "field": "exact_o_linked_glycans", "count": 8 }, { "field": "exact_n_linked_sites", "count": 2 }, { "field": "exact_n_linked_glycan_sites", "count": 2 }, { "field": "exact_n_linked_glycans", "count": 19 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 12 }, { "field": "n_linked_sites", "count": 3 }, { "field": "o_linked_sites", "count": 9 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 12 }, { "field": "exact_o_linked_sites", "count": 9 }, { "field": "exact_n_linked_sites", "count": 3 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 5496 }, { "field": "total_sites", "count": 3195 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1282 }, { "field": "total_sites", "count": 1094 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4214 }, { "field": "total_sites", "count": 2754 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 88 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }